Clinical Phenotypes Associated with mtDNA rRNA & tRNA Mutations, Non-LHON

Last update: March 2012

The Top mtDNA Protein Synthesis (rRNA & tRNA) Gene Mutations

SyndromesLocusDiseaseAlleleRNAHoHe References
CARDIOMYOPATHY
Mitochondrial Myopathy and CardiomyopathyMTTL1MMCA3260GtRNA Leu (UUR)-+(163,177)
Mitochondrial Myopathy and Cardiomyopathy MTTL1MMCC3303TtRNA Leu (UUR)++(149)
Maternally Inherited CardiomyopathyMTTIMICMA4300GtRNA Ile++(125)
DEAFNESS/ SENSORINEURAL HEARING LOSS
DeafnessMTRNR1DEAFC1494T12S rRNA+ - (47)
DeafnessMTRNR1DEAFA1555G12S rRNA + - (151,153,159)
Deafness/Sensorineural Hearing LossMTTS1 precursorSNHLA7445GtRNA Ser (UCN) precursor+ +(146)
Deafness/Sensorineural Hearing LossMTTS1SNHLT7511CtRNA Ser (UCN)++(84)
DIABETES MELLITUS
Diabetes mellitus and deafness MTTL1DM/ DMDF / MIDD / SNHL / FSGS / Cardiac + multi-organ dysfunctionA3243GtRNA Leu (UUR)- +(130,131,172)
ENCEPHALOMYOPATHY
Encephalomyopathy, MELASMTTFMELAS/ MM & EXITG583AtRNA Phe-+(23,88)
Encephalomyopathy, ataxia, myoclonus, and deafnessMTTVAMDFG1606AtRNA Val- +(101)
Encephalomyopathy, MELASMTTL1MELAS / LSA3243GtRNA Leu (UUR)-+(178)
Encephalomyopathy, MELASMTTL1MELASC3256TtRNA Leu (UUR)-+(147,155)
Encephalomyopathy, MELASMTTL1MELAST3271CtRNA Leu (UUR)-+(152,160,174)
Encephalomyopathy, MELAS MTTL1MELAS / Myopathy / Deafness + Cognitive Impairment T3291CtRNA Leu (UUR)-+(126,139)
Encephalomyopathy, MELASMTTQMELAS/ encephalopathyG4332AtRNA Gln-+(61)
Encephalomyopathy, Leigh syndromeMTTWMILSA5537insTtRNA Trp-+(110)
Encephalomyopathy MTTS1PEM / AMDF / Motor neuron disease-likeC7472insC C7471CC (='7472insC')tRNA Ser (UCN)++(89,90,95,137)
Encephalomyopathy, MERRFMTTKMERRFA8344GtRNA Lys- +(179,181)
Encephalomyopathy, MERRFMTTKMERRFT8356CtRNA Lys- +(132,166,170)
Encephalomyopathy, MERRF MTTKMERRF / MICM? DEAF/ Autism / LS/ Ataxia + LipomasG8363AtRNA Lys-+(109,121)
EncephalomyopathyMTTGPEMT10010CtRNA Gly- +(103)
Encephalomyopathy, MERRFMTTHMERRF-MELAS/ cerebral edemaG12147AtRNA His-+(42,44)
MITOCHONDRIAL MYOPATHY
Mitochondrial MyopathyMTTL1MM/CPEOA3243GtRNA Leu (UUR)-+(143,156)
Mitochondrial MyopathyMTTL1MMA3302GtRNA Leu (UUR)- +(26,150,162)
Mitochondrial Myopathy, CPEOMTTICPEO/MSG4298AtRNA Ile- +(100)
Mitochondrial Myopathy, CPEOMTTICPEOG4308AtRNA Ile- +(2,3)
Mitochondrial MyopathyMTTAMyopathyG5650AtRNA Ala- +(16)
Mitochondrial Myopathy, CPEOMTTNCPEO/MMG5703AtRNA Asn-+(55,107,155)
Mitochondrial MyopathyMTTS1MM / EXITG7497AtRNA Ser (UCN)++(35,50,90)
Mitochondrial Myopathy, CPEOMTTL2CPEO / KSSG12315AtRNA Leu (CUN)-+(117)
Mitochondrial MyopathyMTTEReversible COX deficiency myopathyT14674CtRNA Glu+-(7,12)
Mitochondrial MyopathyMTTEMM+DM / EncephalomyopathyT14709CtRNA Glu+ +(127,128)

 

Representative Reported Pathogenic Protein Synthesis Mutations for various phenotypic presentations selected from over 275 reported variants see Mitomap table for additional reports.

SyndromesLocus DiseaseAllele RNAHoHeStatusReferences
ENCEPHALOMYOPATHY
EncephaloMyopathy, Leigh SyndromeMTTV LSC1624TtRNA Val+-Rep (57)
EncephaloMyopathy, Leigh SyndromeMTTV Adult LS G1644TtRNA Val-+Rep (104)
Encephalomyopathy Leigh SyndromeMTTW MILSA5537insTtRNA Trp-+Rep (110)
Encephalomyopathy MERRFMTTF MERRFG611AtRNA Phe - +Rep(40)
Encephalomyopathy MERRFMTTK MERRFG8361AtRNA Lys - +Rep(53)
Encephalomyopathy MERRFMTTK MERRF/MICM+ DEAF/ AutismG8363AtRNA Lys -+Rep (109,121)
Encephalomyopathy MERRFMTTL1 MERRF/KSS overlapG3255A tRNA Leu (UUR)-+Rep (51)
Encephalomyopathy Myoclonus and Psychomotor RegressionMTTDMEPRA7543G tRNA Asp- +Rep(83)
Encephalomyopathy Ataxia, Myoclonus and DeafnessMTTVAMDFG1606A tRNA Val- +Rep(101)
Encephalomyopathy MELASMTTL1 MELASG3244AtRNA Leu (UUR)-+Rep (33)
Encephalomyopathy MELASMTTL1 MELASA3252GtRNA Leu (UUR)-+Rep (126,157)
Encephalomyopathy MELASMTTL1 MELAS/MyopathyT3258CtRNA Leu (UUR)-+Rep (68)
Encephalomyopathy MELAS MTTL1 MELAST3291CtRNA Leu (UUR)-+Rep (126,139)
Encephalomyopathy MELASMTTV MELASG1642AtRNA Val - +Rep(86)
Encephalomyopathy MELASMTTF MELASG583AtRNA Phe - +Rep(88)
Encephalomyopathy MELASMTRNR2 MELASC3093G16S rRNA-+Rep (65)
EncephalomyopathyMTTL1 PEMT3271delTtRNA Leu (UUR) - +Rep(136)
EncephalopathyMTTL1Encephalomyopathy C3287AtRNA Leu (UUR)-+Rep (31)
EncephalomyopathyMTTI Progressive EncephalopathyT4290C tRNA Ile++Rep (39)
EncephalomyopathyMTTI Mitochondrial EncephalocardiomyopathyC4320TtRNA Ile -+Rep (135)
EncephalomyopathyMTTW EncephalomyopathyG5540A tRNA Trp-+Rep (77)
EncephalomyopathyMTTN EncephalomyopathyT5693C tRNA Asn+-Rep (32)
EncephalomyopathyMTTC EncephalopathyT5814CtRNA Cys - +Rep(98,118)
EncephalomyopathyMTTC Progressive DystoniaA5816G tRNA Cys+-Rep (18,19)
EncephalomyopathyMTTS1 PEM/MERMET7512CtRNA Ser (UCN)++Rep (89,90,133)
EncephalomyopathyMTTK Mitochondrial EncephalopathyG8328A tRNA Lys-+Rep (82)
EncephalomyopathyMTTK Dystonia and stroke-like episodesA8332G tRNA Lys+-Rep (6)
EncephalomyopathyMTTG PEMT10010CtRNA Gly - +Rep(103)
EncephalopathyMTTRProgressive Encephalopathy A10438GtRNA Arg-+Rep (45)
EncephalopathyMTTEMitochondrial Encephalomyopathy C14680AtRNA Glu-+Rep (20)
EncephalopathyMTTEProgressive Encephalopathy A14696GtRNA Glu-+Rep (45)
EncephalopathyMTTEMitochondrial Leukoencephalopathy G14724AtRNA Glu-+Rep (22)
EncephalopathyMTTEEncephalomyopathy + Retinopathy G14740AtRNA Glu-+Rep (8,31,69)
EncephalomyopathyMTATT EncephalomyopathyG15915A tRNA Thr-+Rep (111,120)
EncephalopathyMTTPMERRF-like disease G15967AtRNA Pro- +Rep(10)
EncephalopathyMTTPAtaxia+RP+deafness C15975TtRNA Pro- +Rep(11)
Encephalomyopathy Rett SyndromeMTRNR2 Rett SyndromeC2835TrRNA 16S-+Rep (79,113)
Multisystem DiseaseMTTI Varied familial presentationG4284A tRNA Ile-+Rep (56)
Encephalomyopathy Gastrointestinal Reflux and Sudden Infant Death SyndromeMTTGGER/SIDS A10044GtRNA Gly- +Rep(122)
MITOCHONDRIAL MYOPATHY
Mitochondrial MyopathyMTTF MMT582CtRNA Phe - +Rep(43)
Mitochondrial MyopathyMTTF MMT618CtRNA Phe - +Rep(93)
Mitochondrial MyopathyMTTF EXIT & DeafnessG622AtRNA Phe - +Rep(24)
Mitochondrial MyopathyMTTF Ataxia, PEO, deafnessT642C tRNA Phe-+Rep (13)
Mitochondrial MyopathyMTTL1 MMG3242AtRNA Leu (UUR)+-Rep (33)
Mitochondrial MyopathyMTTL1 MM/CPEOT3250CtRNA Leu (UUR)-+Rep (80,168)
Mitochondrial MyopathyMTTL1 MMA3251GtRNA Leu (UUR) - +Rep(164)
Mitochondrial MyopathyMTTL1 MMC3254GtRNA Leu (UUR) - +Rep(108)
Mitochondrial MyopathyMTTL1 MyopathyA3280GtRNA Leu (UUR)-+Rep (68)
Mitochondrial MyopathyMTTL1 MyopathyA3288GTRNA Leu(UUR)-+Rep (81)
Mitochondrial MyopathyMTTI MMA4267GtRNA Ile - +Rep(58)
Mitochondrial MyopathyMTTI CPEOA4302GtRNA Ile - +Rep(5)
Mitochondrial MyopathyMTTQ MyopathyT4370ATtRNA Gln - +Rep(72)
Mitochondrial MyopathyMTTM MMT4409CtRNA Met - +Rep(102)
Mitochondrial MyopathyMTTM MMG4450AtRNA Met - +Rep(98)
Mitochondrial MyopathyMTTW MMG5521AtRNA Trp - +Rep(97)
Mitochondrial MyopathyMTTW MMT5543CtRNA Trp - +Rep(69)
Mitochondrial MyopathyMTTW MMT5543CtRNA Trp - +Rep(31)
Mitochondrial MyopathyMTTW MyopathyT5567CtRNA Trp - +Rep(13)
Mitochondrial MyopathyMTTA MyopathyG5591AtRNA Ala - +Rep(29)
Mitochondrial MyopathyMTTA PEOT5636CtRNA Ala - +Rep(1)
Mitochondrial MyopathyMTTS1 PEOG7458AtRNA Ser (UCN) - +Rep(9)
Mitochondrial MyopathyMTTS1 MMT7480GtRNA Ser (UCN) - +Rep(37)
Mitochondrial MyopathyMTTS1 MMG7497AtRNA Ser (UCN)++Rep (90)
Mitochondrial MyopathyMTTD Mitochondrial MyopathyA7526G tRNA Asp-+Rep (36)
Mitochondrial MyopathyMTTK MyopathyT8355CtRNA Lys - +Rep(68)
Mitochondrial MyopathyMTTK MyopathyT8362GtRNA Lys - +Rep(68)
Mitochondrial MyopathyMTTR Mitochondrial MyopathyG10406A tRNA Arg-+Rep (21)
Mitochondrial MyopathyMTTL2 CPEOG12316AtRNA Leu (CUN) - +Rep(14)
Mitochondrial MyopathyMTTL2 MMA12320GtRNA Leu (CUN) - +Rep(116)
Mitochondrial MyopathyMTTE Reversible COX deficiency myopathyT14674GtRNA Glu +-Rep (7)
Mitochondrial MyopathyMTTE Mitochondrial myopathy w respiratory failureA14687GtRNA Glu +-Rep (48)
Mitochondrial MyopathyMTTE CPEO + MyopathyT14723C tRNA Glu-+Rep (4)
Mitochondrial MyopathyMTTE EXITG14739AtRNA Glu - +Rep(27)
Mitochondrial MyopathyMTTT MMT15940delTtRNA Thr+-Rep (96)
Mitochondrial MyopathyMTTP MMC15990TtRNA Pro - +Rep(142,154)
Mitochondrial MyopathyMTTP Mitochondrial cytopathyT16002C tRNA Pro-+Rep (75)
Mitochondrial Myopathy / EncephalopathyMTTS2 Myopathy / EncephalopathyG12207AtRNA Ser (AGY) -+Rep (30,60)
Mitochondrial Myopathy and Cardiomyopathy MTTL1MMCC3303T tRNA Leu (UUR)++Rep (149)
Mitochondrial Myopathy CytopathyMTTY Mitochondrial Cytopathy/ FSGSA5843GtRNA Tyr+ -Rep(54)
Mitochondrial Myopathy CytopathyMTTK Mitochondrial cytopathyA8326GtRNA Lys -+Rep (59)
Mitochondrial Myopathy CytopathyMTTP Mitochondrial cytopathyG15995AtRNA Pro -+Rep (59)
Mitochondrial Myopathy Lethal Infantile Mitochondrial MyopathyMTTTLIMMA15923G tRNA Thrnd- Rep(165,167,176)
Mitochondrial Myopathy Mitochondrial Neurogastrointestinal EncephalomyopathyMTTKMNGIE G8313AtRNA Lys- +Rep(115)
Mitochondrial Myopathy with Chronic Intestinal Pseudo-obstructionMTTGCIPO A10006GtRNA GlyndndRep (158,175)
Mitochondrial Myopathy with Chronic Intestinal Pseudo-obstructionMTTS2CIPO C12246GtRNA Ser (AGY)ndndRep (158,175)
Mitochondrial Myopathy with MyoglobinuriaMTTFMyoglobinuria A606GTRNA Phe- +Rep(106)
Mitochondrial Myopathy with Renal Dysfunction MTTFTubulo-interstitial nephritisA608GtRNA Phe +-Rep (71)
Mitochondrial Myopathy, CPEOMTTL1 CPEOC3254TtRNA Leu (UUR)+-Rep (33)
Mitochondrial Myopathy, CPEOMTTI CPEOT4274CtRNA Ile - +Rep(105)
Mitochondrial Myopathy, CPEOMTTI CPEOT4285CtRNA Ile - +Rep(123)
Mitochondrial Myopathy, CPEOMTTI CPEO/MSG4298AtRNA Ile - +Rep(100)
Mitochondrial Myopathy, CPEOMTTI CPEOG4309AtRNA Ile - +Rep(87)
Mitochondrial Myopathy, CPEOMTTA CPEOT5628CtRNA Ala - +Rep(67)
Mitochondrial Myopathy, CPEOMTTN CPEO/MMT5692CtRNA Asn-+Rep (68,148,158)
Mitochondrial Myopathy, CPEOMTTN CPEO/MMG5698AtRNA Asn-+Rep (68)
Mitochondrial Myopathy, CPEOMTTN CPEO/MMG5703GtRNA Asn-+Rep (107,155)
Mitochondrial Myopathy, CPEOMTTK CPEO + MyoclonusG8342A tRNA Lys-+Rep (85)
Mitochondrial Myopathy, CPEOMTTL2 CPEOG12294AtRNA Leu (CUN)-+Rep (52)
Mitochondrial Myopathy, CPEOMTTL2 CPEOT12311CtRNA Leu (CUN)++Rep (140,147)
Mitochondrial Myopathy, CPEOMTTL2 CPEOG12315AtRNA Leu (CUN)-+Rep (117)
Mitochondrial Myopathy, Exercise Intolerance MTTYExercise IntoleranceT15940GtRNA Tyr -+Rep (74)
Mitochondrial Myopathy, Gastrointestinal Syndrome MTTWGastrointestinal SyndromeG5532AtRNA Trp -+Rep (41)
Mitochondrial Myopathy, KSSMTTL1 KSSG3249AtRNA Leu (UUR)-+Rep (66)
Mitochondrial Myopathy, Ocular MyopathyMTTL1 Ocular myopathyT3273CtRNA Leu (UUR) -+Rep (62)
CARDIOMYOPATHY
Maternally Inherited Hypertrophic CardiomyopathyMTTIMHCM A4295GtRNA Ile- +Rep(119)
Maternally Inherited CardiomyopathyMTTI MICMA4300GtRNA Ile-+Rep (125)
CardiomyopathyMTTWHCM, severe multisystem disorder C5545TtRNA Trp-+Rep (17)
CardiomyopathyMTTKCardiomyopathy A8348GtRNA Lys- +Rep(70)
Maternally Inherited Hypertrophic CardiomyopathyMTTGMHCM T9997CtRNA Glynd+Rep (145)
Maternally Inherited CardiomyopathyMTTH MICMG12192AtRNA His+-Rep (76)
CardiomyopathyMTTL2Dilated Cardiomyopathy T12297CtRNA Leu (CUN)-+Rep (64)
Fatal Infantile Cardiomyopathy Plus (MELAS) MTTIFICPA4269G tRNA Ile-+Rep (141,171)
Fatal Infantile Cardiomyopathy Plus (MELAS) MTTIFICPA4317G tRNA IlendndRep (169,180)
DEAFNESS
DeafnessMTTFDEAF A636GtRNA Phe+ - Rep(15)
DeafnessMTRNR1DEAF A827G12S rRNA+ - Rep(34)
DeafnessMTRNR1DEAF T961C12S rRNA+ - Rep(34)
DeafnessMTRNR1DEAF T961delT+C(n)ins12S rRNA++Rep (124)
DeafnessMTRNR1DEAF T961insC12S rRNA+ - Rep(124)
DeafnessMTRNR1DEAF T1005C12S rRNA+ - Rep(34)
DeafnessMTRNR1DEAF A1116G12S rRNA+ - Rep(34)
DeafnessMTRNR1DEAF C1494T12S rRNA+ - Rep(47)
DeafnessMTTCMyopathy, deafness G5783AtRNA Cys- +Rep(25)
Deafness; Sensory Neural Hearing LossMTTS1 SNHLT7510CtRNA Ser (UCN)-+Rep (73)
Deafness; Sensory Neural Hearing LossMTTS1 SNHLT7511CtRNA Ser(UCN)++Rep (84)
Deafness; cerebellar dysfunctionMTTS1 Deafness and Cerebellar Dysfunction7472insCtRNA Ser(UCN) -+Rep (137)
DeafnessMTTHDEAF + RP G12183AtRNA His- +Rep(49)
Deafness; Ataxia and MRMTTE Deafness, Mental Retardation, Cerebellar DysfunctionT14709CtRNA Glu -+Rep (127)
DIABETES MELLITUS
Diabetes MellitusMTRNR1 DMC1310T12S +- Rep(99)
Diabetes MellitusMTRNR1 DMA1438G12S +- Rep(99)
Diabetes MellitusMTTL1 DMT3264CtRNALeu (UUR) - +Rep(112)
Diabetes MellitusMTTL1 DMT3271CtRNA Leu (UUR) - +Rep(114)
Diabetes Mellitus; Metabolic SyndromeMTTI Metabolic Syndrome & HypomagnesemiaT4291CtRNA Ile +-Rep (46)
Diabetes Mellitus & Deafness & CardiomyopathyMTTKDMDF/MERRF/HCM A8296GtRNA Lys- +Rep(78,91,92)
Diabetes Mellitus & DeafnessMTTS2 DMDFC12258AtRNA Ser (AGY)+Rep (94)
OTHER
Movement DisorderMTTV Movement DisorderT1659C tRNA Val- +Rep(38)
Alzheimer & Parkinson DiseaseMTRNR2 ADPDG3196ArRNA 16S++Rep (161,173)
Alzheimer & Parkinson Disease; Deafness & Migraine MTTQADPD/Hearing loss and migraineT4336CtRNA Gln +_Rep (63,129,138,144,161,173)
Dementia and ChoreaMTTW DEMCHOG5549AtRNA Trp - +Rep(134)
Multi-organ FailureMTTN Multi-organ failureT5728C tRNA Asn- +Rep(28)

Abbreviations ADPD = Alzheimer's Disease and Parkinson Disease; AMDF = Ataxia, Myopathy, and DeaFness; CPEO = Chronic Progressive Ophthalmoplegia; DEAF/SNHL = Deafness/Sensorineural Hearing Loss; DEMCHO: Dementia and Chorea; DM = Diabetes Mellitus; DMDF = Diabetes Mellitus and Deafness; FSGS = Focal Segmental Glomerulosclerosis; GER = Gastrointestinal Reflux; MERRF = Myoclonic Epilepsy and Ragged Red Fiber disease; MELAS = Mitochondrial Encephalomyopathy, Lactic acidosis and Stroke-like episodes; MICM = Maternally Inherited Cardiomyopathy; MIDD = Maternally Inherited Diabetes and Deafness; MILS = Maternally Inherited Leigh Syndrome; MMC = Mitochondrial Myopathy and Cardiomyopathy; MNGIE = Mitochondrial NeuroGastroIntestinal Encephalopathy; PEM = Progressive Encephalomyopathy; RP = Retinitis Pigmentosa; SIDS: Sudden Infant Death Syndrome; SNHL = Sensorineural Hearing Loss.

References

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113. Tang, J., Qi, Y., Bao, X. H. and Wu, X. R. (1997). "Mutational analysis of mitochondrial DNA of children with Rett syndrome". Pediatric Neurology 17(4):327-330.

114. Tsukuda, K., Suzuki, Y., Kameoka, K., Osawa, N., Goto, Y., Katagiri, H., Asano, T., Yazaki, Y. and Oka, Y. (1997). Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region". Diabetic Medicine 14(12):1032-1037.

115. Verma, A., Piccoli, D. A., Bonilla, E., Berry, G. T., DiMauro, S. and Moraes, C. T. (1997). "A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy". Pediatric Research 42(4):448-454.

116. Weber, K., Wilson, J. N., Taylor, L., Brierley, E., Johnson, M. A., Turnbull, D. M. and Bindoff, L. A. (1997). "A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle". American Journal of Human Genetics 60(2):373-380.

117. Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G. and Shoubridge, E. A. (1996). "A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy". Human Molecular Genetics 5(11):1835- 1840.

118. Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S. and DiMauro, S. (1996). "Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy". Human Mutation 7(2):158-163.

119. Merante, F., Myint, T., Tein, I., Benson, L. and Robinson, B. H. (1996). "An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy". Human Mutation 8(3):216-222.

120. Nishino, I., Seki, A., Maegaki, Y., Takeshita, K., Horai, S., Nonaka, I. and Goto, Y. (1996). A novel mutation in the mitochondrial tRNAThr gene associated with a mitochondrial encephalomyopathy". Biochemical and Biophysical Research Communications 225(1):180-185.

121. Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E. and DiMauro, S. (1996). "Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A)". American Journal of Human Genetics 58(5):933-939.

122. Santorelli, F. M., Schlessel, J. S., Slonim, A. E. and DiMauro, S. (1996). "Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death". Pediatric Neurology 15(2):145-149.

123. Silvestri, G., Servidei, S., Rana, M., Ricci, E., Spinazzola, A., Paris, E. and Tonali, P. (1996). "A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia". Biochemical and Biophysical Research Communications 220(3):623-627.

124. Bacino, C., Prezant, T. R., Bu, X., Fournier, P. and Fischel-Ghodsian, N. (1995). "Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness". Pharmacogenetics 5(3):165- 172.

125. Casali, C., Santorelli, F. M., D'Amati, G., Bernucci, P., DeBiase, L. and DiMauro, S. (1995). "A novel mtDNA point mutation in maternally inherited cardiomyopathy". Biochemical and Biophysical Research Communications 213(2):588-593.

126. Goto, Y. (1995). "Clinical features of MELAS and mitochondrial DNA mutations". Muscle and Nerve 3(12):S107-S112.

127. Hanna, M. G., Nelson, I., Sweeney, M. G., Cooper, J. M., Watkins, P. J., Morgan-Hughes, J. A. and Harding, A. E. (1995). "Congenital encephalomyopathy and adult-onset myopathey and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation". American Journal of Human Genetics 56(5):1026-1033.

128. Hao, H., Bonilla, E., Manfredi, G., DiMauro, S. and Moraes, C. T. (1995). "Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus". American Journal of Human Genetics 56(5):1017-1025.

129. Hutchin, T. and Cortopassi, G. (1995). "A mitochondrial DNA clone is associated with increased risk for Alzheimer disease". Proceedings of the National Academy of Sciences of the United States of America 92(15):6892-6895.

130. Manouvrier, S., Rotig, A., Hannebique, G., Gheerbrandt, J. D., Royer-Legrain, G., Munnich, A., Parent, M., Grunfeld, J. P., Largilliere, C., Lombes, A. and Bonnefont, J. P. (1995). "Point mutation of the mitochondrial tRNALeu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness". Journal of Medical Genetics 32(8):654-656.

131. Massin, P., Guillausseau, P. J., Vialettes, B., Paquis, V., Orsini, F., Grimaldi, A. D. and Gaudric, A. (1995). "Macular pattern dystrophy associated with a mutation of mitochondrial DNA". American Journal of Ophthalmology 120(2):247-248.

132. Masucci, J. P., Davidson, M., Koga, Y., Schon, E. A. and King, M. P. (1995). "In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALysgene: two genotypes produce similar phenotypes". Molecular and Cellular Biology 15(5):2872-2881.

133. Nakamura, M., Nakano, S., Goto, Y., Ozawa, M., Nagahama, Y., Fukuyama, H., Akiguchi, I., Kaji, R. and Kimura, J. (1995). "A novel point mutation in the mitochondrial tRNASer(UCN) gene detected in a family with MERRF/MELAS overlap syndrome". Biochemical and Biophysical Research Communications 214(1):86- 93.

134. Nelson, I., Hanna, M. G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J. A. and Harding, A. E. (1995). "A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study". Annals of Neurology 37(3):400-403.

135. Santorelli, F. M., Mak, S. C., Vazquez-Acevedo, M., Gonzalez-Astiazaran, A., Ridaura-Sanz, C., Gonzalez-Halphen, D. and DiMauro, S. (1995). "A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy". Biochemical and Biophysical Research Communications 216(3):835-840.

136. Shoffner, J. M., Bialer, M. G., Pavlakis, S. G., Lott, M. T., Kaufman, A., Dixon, J., Teichberg, S. and Wallace, D. C. (1995). <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=7854527" target="_blank">"Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene". Neurology 45(2):286-292.

137. Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G. M., Reid, F. M., Mariotti, C. and Zeviani, M. (1995). "Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene". Human Molecular Genetics 4(8):1421-1427.

138. Cortopassi, G. A. and Hutchin, T. P. (1994). Germline inheritance of a rare mtDNA variant leads to greatly increased risk for Alzheimer's disease. (Abstract 857)". American Journal of Human Genetics 55(Supplement):A149.

139. Goto, Y., Tsugane, K., Tanabe, Y., Nonaka, I. and Horai, S. (1994). "A new point mutation at nucelotide pair 3291 of the tRNALeu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)". Biochemical and Biophysical Research Communications 202(3):1624-1630.

140. Hattori, Y., Goto, Y., Sakuta, R., Nonaka, I., Mizuna, Y. and Horai, S. (1994). Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO)". Journal of the Neurological Sciences 125(1):50-55.

141. Hayashi, J., Ohta, S., Kagawa, Y., Takai, D., Miyabayashi, S., Tada, K., Fukushima, H., Inui, K., Okada, S., Goto, Y. and Nonaka, I. (1994). "Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes". The Journal of Biological Chemistry 269(29):19060-19066.

142. Ionasescu, V. V., Hart, M., DiMauro, S. and Moraes, C. T. (1994). "Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNAPro gene". Neurology 44(5):975-977.

143. Jean-Francois, M. J., Lertrit, P., Berkovic, S. F., Crimmins, D., Morris, J., Marzuki, S. and Byrne, E. (1994). "Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies". Australian and New Zealand Journal of Medicine 24(2):188-193.

144. Leroy, D. and Norby, S. (1994). "A new human mtDNA polymorphism: tRNAGln/4336)(T-C)". Clinical Genetics 45(2):109-110.

145. Merante, F., Tein, I., Benson, L. and Robinson, B. H. (1994). "Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene". American Journal of Human Genetics 55(3):437-446.

146. Reid, F. M., Vernham, G. A. and Jacobs, H. T. (1994). "A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness". Human Mutation 3(3):243-247.

147. Sato, W., Hayasaka, K., Shoji, Y., Takahashi, T., Takada, G., Saito, M., Fukawa, O. and Wachi, E. (1994). "A mitochondrial tRNA(Leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)". Biochemistry and Molecular Biology International (Sydney) 33(6):1055-1061.

148. Seibel, P., Lauber, J., Klopstock, T., Marsac, C., Kadenbach, B. and Reichmann, H. (1994). "Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNAAsn gene". Biochemical and Biophysical Research Communications 204(2):482-489.

149. Silvestri, G., Santorelli, F. M., Shanske, S., Whitley, C. B., Schimmenti, L. A., Smith, S. A. and DiMauro, S. (1994). "A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy". Human Mutation 3(1):37-43.

150. Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K. J., Lightowlers, R. N., Turnbull, D. M. and Weber, K. (1993). "Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism". The Journal of Biological Chemistry 268(26):19559-19564.

151. Fischel-Ghodsian, N., Prezant, T. R., Bu, X. and Oztas, S. (1993). "Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity". American Journal of Otolaryngology 14(6):399-403.

152. Hayashi, J., Ohta, S., Takai, D., Miyabayashi, S., Sakuta, R., Goto, Y. and Nonaka, I. (1993). "Accumulation of mtDNA with a mutation at position 3271 in tRNALeu(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function". Biochemical and Biophysical Research Communications 197(3):1049-1055.

153. Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C. and Cortopassi, G. (1993). "A molecular basis for human hypersensitivity to aminoglycoside antibiotics". Nucleic Acids Research 21(18):4174-4179.

154. Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E. A. and DiMauro, S. (1993). "A mitochondrial tRNA anticodon swap associated with a muscle disease". Nature Genetics 4(3):284-288.

155. Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A. and DiMauro, S. (1993). "Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot?". The Journal of Clinical Investigation 92(6):2906-2915.

156. Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E. and DiMauro, S. (1993). "Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA". Neuromuscular Disorders 3(1):43-50.

157. Morten, K. J., Cooper, J. M., Brown, G. K., Lake, B. D., Pike, D. and Poulton, J. (1993). "A new point mutation associated with mitochondrial encephalomyopathy". Human Molecular Genetics 2(12):2081-2087.

158. Munscher, C., Muller-Hocker, J. and Kadenbach, B. (1993). "Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA". Biological Chemistry Hoppe Seyler 374(12):1099-1104.

159. Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W. Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M. and Fischel-Ghodsian, N. (1993). "Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness". Nature Genetics 4(3):289-294.

160. Sakuta, R., Goto, Y., Horai, S. and Nonaka, I. (1993). "Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke- like episodes: a comparative study". Journal of the Neurological Sciences 115(2):158-160.

161. Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T., Cabell, M. R., Mirra, S. S., Beal, M. F., Yang, C., Gearing, M., Salvo, R., Watts, R. L., Juncos, J. L., Hansen, L. A., Crain, B. J., Fayad, M., Reckord, C. L. and Wallace, D. C. (1993). "Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients". Genomics 17(1):171-184.

162. Shoffner, J. M., Krawiecki, N., Cabell, M. F., Torroni, A. and Wallace, D. C. (1993). "A novel tRNALeu(UUR) mutation in childhood mitochondrial myopathy. Poster 949". American Journal of Human Genetics 53(Suppl.):287.

163. Sweeney, M. G., Brockington, M., Weston, M. J., Morgan-Hughes, J. A. and Harding, A. E. (1993). "Mitochondrial DNA transfer RNA mutation Leu(UUR) A-G 3260: a second family with myopathy and cardiomyopathy". Quarterly Journal of Medicine 86(7):435-438.

164. Sweeney, M. G., Bundey, S., Brockington, M., Poulton, K. R., Winer, J. B. and Harding, A. E. (1993). "Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene". Quarterly Journal of Medicine 86(11):709-713.

165. Yoon, K. L., Ernst, S. G., Rasmussen, C., Dooling, E. C. and Aprille, J. R. (1993). "Mitochondrial disorder associated with newborn cardiopulmonary arrest". Pediatric Research 33(5):433-440.

166. Zeviani, M., Muntoni, F., Savarese, N., Serra, G., Tiranti, V., Carrara, F., Mariotti, C. and DiDonato, S. (1993). "A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNALys gene". European Journal of Human Genetics 1(1):80-87.

167. Brown, M. D., Torroni, A., Shoffner, J. M. and Wallace, D. C. (1992). "Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy". American Journal of Human Genetics 51(2):446- 447.

168. Goto, Y., Tojo, M., Tohyama, J., Horai, S. and Nonaka, I. (1992). "A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy". Annals of Neurology 31(6):672- 675.

169. Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S. and Ozawa, T. (1992). "Mitochondrial DNA mutations in cardiomyopathy". Japanese Circulation Journal 56(10):1045-1053.

170. Silvestri, G., Moraes, C. T., Shanske, S., Oh, S. J. and DiMauro, S. (1992). "A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged red fibers (MERRF)". American Journal of Human Genetics 51(6):1213-1217.

171. Taniike, M., Fukushima, H., Yanagihara, I., Tsukamoto, H., Tanaka, J., Fujimura, H., Nagai, T., Sano, T., Yamaoka, K., Inui, K. and Okada, S. (1992). "Mitochondrial tRNAIle mutation in fatal cardiomyopathy". Biochemical and Biophysical Research Communications 186(1):47-53.

172. van den Ouweland, J. M., Lemkes, H. H. P., Ruitenbeek, W., Sandkjujl, L. A., deVijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P. and Maassen, J. A. (1992). "Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness". Nature Genetics 1(5):368-371.

173. Wallace, D. C., Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T. and Cabell, M. (1992). "Mitochondrial DNA mutations associated with Alzheimer's and Parkinson's disease." American Journal of Human Genetics 51:A30.

174. Goto, Y., Nonaka, I. and Horai, S. (1991). "A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)". Biochimica et Biophysica Acta 1097(3):238-240.

175. Lauber, J., Marsac, C., Kadenbach, B. and Seibel, P. (1991). "Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases". Nucleic Acids Research 19(7):1393-1397.

176. Yoon, K. L., Aprille, J. R. and Ernst, S. G. (1991). "Mitochondrial tRNAThr mutation in fatal infantile respiratory enzyme deficiency". Biochemical and Biophysical Research Communications 176(3):1112-1115.

177. Zeviani, M., Gellera, C., Antozzi, C., Rimoldi, M., Morandi, L., Villani, F., Tiranti, V. and DiDonato, S. (1991). "Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)". Lancet 338(8760):143-147.

178. Goto, Y., Nonaka, I. and Horai, S. (1990). "A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies". Nature 348(6302):651- 653.

179. Shoffner, J. M., Lott, M. T., Lezza, A. M., Seibel, P., Ballinger, S. W. and Wallace, D. C. (1990). "Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation". Cell 61(6):931-937.

180. Tanaka, M., Ino, H., Ohno, K., Hattori, K., Sato, W., Ozawa, T., Tanaka, T. and Itoyama, S. (1990). "Mitochondrial mutation in fatal infantile cardiomyopathy". Lancet 336(8728):1452.

181. Wallace, D. C., Zheng, X., Lott, M. T., Shoffner, J. M., Hodge, J. A., Kelley, R. I., Epstein, C. M. and Hopkins, L. C. (1988). "Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease". Cell 55(4):601-610.


The original version of this table was posted in 2006, reproduced with permission from PRINCIPLES AND PRACTICE OF MEDICAL GENETICS, 5/e. © 2006 Elsevier Ltd.
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