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33 patient data entries in database for clusters 2 and 3.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
94R807C3
A467T2
Encephalopathy/dementia, liver failure, cholestasis, lactic acidosis, altered mental status. 47% mtDNA copy number in muscle, 8% mtDNA copy number in liver, ETC low.
-lactic acidosis
-liver failure
-encephalopathy
-dementia
-altered mental status
-cholestasis
infantile
n/a1n/aTang et al, 2011;

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659A467T2
G303R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/a0.42Baruffini et al, 2011;

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658A467T2
G303R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/a0.92Baruffini et al, 2011;

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558G303R3
A467T2
Epilepsy, stroke-like episode, Ataxia.
-epilepsy
-movement disorder (ataxia)
-stroke
infantile
2n/a8Tzoulis et al, 2014;

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557G303R3
A467T2
Epilepsy, stroke-like episode.
-epilepsy
-stroke
infantile
0.9n/a1.1Tzoulis et al, 2014;

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544G303R3
A467T2
Psychomotor deterioration, hypotonia, spasticity, Stroke-like episodes, Refractory seizures, Epilepsia Partialis Continua, Status Epilepticus, Myoclonus, severe hepatic dysfunction,
-status epilepticus
-myoclonic seizures
-intractable seizure
-epilepsia partialis
-spasticity
-stroke
-hypotonic
-stroke-like episodes
infantile
0.916n/an/aSofou et al, 2012;

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95R807H3
A467T2
Developmental delay, hypotonia, seizures, hepatic failure, elevated transaminases, renal tubular disease, failure to thrive. 18% mtDNA copy number in blood.
-liver failure
-failure to thrive
-hypotonic
-developmental delay
infantile
n/a1n/aTang et al, 2011;

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93S1095R3
A467T2
Hypotonia, hepatic failure, elevated transaminases, respiratory deficiency/failure, FTT, developmental delay, GI reflux, delayed gastric emptying, dicarboxylic aciduria, high CSF protein, abnormal muscle histology, COX deficiency, vomiting. 12% mtDNA copy number in muscle, 42% mtDNA copy number in blood, ETC low. ptosis, poor head control. Central hypotonia, and absent deep tendon reflexes. He developed hypoxia, ascites, tachycardia, intermittent fevers, and sepsis. Some severely cytochrome oxidase-deficient muscle fibers were present.
-abnormal muscle histology
-ptosis
-liver failure
-failure to thrive
-hypotonic
-developmental delay
-vomiting
-GI reflux
-delayed gastric emptying
-respiratory deficiency
infantile
0.333n/a0.583Tang et al, 2011;

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92P1073L3
A467T2
Psychomotor delay, status epilepticus, liver disease, GI dysmotility, lactic acidosis, optic atrophy.
-lactic acidosis
-status epilepticus
-optic atrophy
-liver dysfunction
-psychomotor delay
-GI dysmotility
infantile
0.01n/a3Kurt et al, 2010;

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91P1073L3
A467T2
Psychomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis, ptosis, hearing loss.
-lactic acidosis
-ptosis
-liver dysfunction
-psychomotor delay
-GI dysmotility
-hearing loss
infantile
0.01n/a0.8Kurt et al, 2010;

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52A467T2
G303R3
Encephalopathy with epilepsy, and liver disease.
-epilepsy
-liver dysfunction
-encephalopathy
infantile
0.9n/a1.1Tzoulis et al, 2010;

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65A467T2
S305R3
Liver failure. 51% mtDNA copy number in muscle, 9% mtDNA copy number in liver, 87% mtDNA copy number in blood.
-liver failure
infantile
n/a1n/aTang et al, 2011;

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54A467T2
G303R3
Encephalopathy with epilepsy, ataxia.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
infantile
2n/a8Tzoulis et al, 2010;

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53A467T2
G303R3
Encephalopathy with epilepsy, and liver disease.
-epilepsy
-liver dysfunction
-encephalopathy
infantile
1n/a1.4Tzoulis et al, 2010;

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66A467T2
S305R3
Alpers, died at age four. Sister also died at age 4 .
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
n/an/a4Blok et al, 2009;

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322S305R3
A467T2
Myoclonic Seizures, Focal motor seizures, Developmental Delay or Regression, visual disturbance, Multi-organ failure, pancreatitis Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-developmental delay
-pancreatitis
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
3n/a3.67Hunter et al, 2011;

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355R1096C3
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal and proximal neurogenic change
-peripheral neuropathy
-ragged red fibers
-ptosis
-PEO
juvenile
1742n/aLax et al, 2012a;

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569L304R3
A467T2
psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia.
-muscle weakness
-ptosis
-PEO
-dysphagia
-areflexia
juvenile
1628n/aVan Goethem et al, 2001;

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59A467T2
L304R3
myopathy, PEO, dysarthria.
-myopathy
-PEO
-dysarthria
juvenile
16n/a37Van Goethem et al, 2003a;

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234A467T2
G268A3
PEO, age of onset 65 years.
-PEO
adult
65n/an/aDi Fonzo et al, 2003;

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292R275Q3
A467T2
presented with blurred vision, elevated CSF protein, she successively developed various neurological signs, ie, bilateral external ophthalmoplegia, ataxia, hearing impairment, and severe depression, ptosis, myopathy, cardiomyopathy, and dysphagia, Muscle biopsy performed at 63 years of age showed numerous ragged-red fibers and multiple mtDNA deletions
-movement disorder (ataxia)
-ragged red fibers
-myopathy
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-dysphagia
adult
3063n/aEchaniz-Laguna et al, 2010;

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42L304R3
P587L2
T251I
PEO, myopathy, ataxia.
-movement disorder (ataxia)
-myopathy
-PEO
adult
4574n/aHorvath et al, 2006;

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515R1096C3
L591F2
sensory ataxic neuropathy, dysarthria, ophthalmoplegia, and dysphagia. At the age of 41, progressive diplopia and ptosis were added to the symptoms. Five years later, she gradually had dysarthria and restless leg syndrome. ragged red fibers.
-sensory ataxia
-ragged red fibers
-ptosis
-ophthalmoplegia
-diplopia
-dysphagia
-dysarthria
adult
3848n/aKurt et al, 2012;

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60A467T2
L304R3
sensory ataxic neuropathy, PEO, dysarthria.
-sensory ataxia
-PEO
-dysarthria
adult
25n/an/aVan Goethem et al, 2003a;

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47R807P3
T251I
P587L2
PEO, axonal sensorimotor polyneuropathy
-polyneuropathy
-axonal sensorimotor polyneuropathy
-PEO
adult
6071n/aDi Fonzo et al, 2003;

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46R807P3
T251I
P587L2
PEO, dysphagia
-PEO
-dysphagia
adult
4552n/aDi Fonzo et al, 2003;

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68R574W2
W312R3
PEO +dysphagia/myopathy.
-myopathy
-PEO
-dysphagia
adult
37n/an/aHorvath et al, 2006;

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570L304R3
A467T2
ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus.
-muscle weakness
-ptosis
-PEO
-areflexia
adult
2538n/aVan Goethem et al, 2001;

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571L304R3
A467T2
ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy.
-muscle weakness
-ptosis
-PEO
-dysphagia
-areflexia
adult
2434n/aVan Goethem et al, 2001;

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601R807P3
T251I
P587L2
PEO, complicated by dysphagia, myopathy.
-myopathy
-PEO
-dysphagia
adult
n/a71n/aDel Bo et al, 2003;

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603R309L3
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/aLamantea et al, 2002;

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45R807P3
T251I
P587L2
PEO
-PEO
adult
4647n/aDi Fonzo et al, 2003;

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43L304R3
T251I
P587L2
PEO, Neuropathy. Affect sibling.
-PEO
adult
6068n/aHorvath et al, 2006;

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1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 33
Avg age of onset in displayed cases: 20.0
Std dev in onset in displayed cases: 22.5

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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