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68 patient data entries in database for cluster 1.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
181Y831C
H1134R1
Anorexia, FTT, drowsiness, hepatomegaly, peripheral odema, liver failure. Onset at 3 months with infantile hepatocerebral mtDNA depletion. Death at 6 months. Asymptomatic mother and father.
-liver failure
-hepatocerebral
-failure to thrive
-hepatomegaly
infantile
0.3n/a0.5Taanman et al, 2009;

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528R1187W1
Mitochondrial depletion syndrome and T cell immunodeficiency. severe recurrent infectious diseases, anemia, and thrombocytopenia. Clinically, he presented with severe psychomotor retardation, axial hypotonia, and a disturbed pain perception leading to debilitating biting of the thumb, lower lip, and tongue. Brain imaging showed hypoplasia of corpus callosum and an impaired myelinization of the temporo- occipital region with consecutive supratentorial hydrocephalus. MtDNA depletion. Neurologic examination revealed adynamia, hypotonia of the trunk, complete absence of deep tendon reflexes as well as primitive reflexes, and a disturbed pain perception with complete absence of pain expression. axonal and demyelinating neuropathy. septicemia with maculopapular exanthema, paronychia, and conjunctivitis.
-demyelinating neuropathy
-hypotonic
-retardation
-septicemia
infantile
0.01n/a1.33Reichenbach et al, 2006;

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405A143V1
Onset with seizures at 6 months, alpers syndrome. Muscle mtDNA depletion.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.5n/a2Sarzi et al, 2007;

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208Y955C1
Onset 0.1 years with dementia, liver dysfunction, lactic acidosis, hearing loss, failure to thrive, generalized ETC complex deficiency.
-lactic acidosis
-liver dysfunction
-failure to thrive
-dementia
-hearing loss
infantile
0.1n/an/aWong et al, 2008;

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196E895G1
Found in one newborn with floppiness and 20% liver mtDNA depletion- Myopathic MDS. Death at 36 hours after birth. 5% mtDNA copy number in muscle, 20% mtDNA copy number in liver.
-no known symptoms
infantile
0.01n/a0.02Spinazzola et al, 2009;

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2D136E1
Q45R
Epilepsy. Father was heterozygous Q45R and epileptic, Mother was heterozygous D136E and had no symptoms.
-epilepsy
childhood
n/a4n/aBlok et al, 2009;

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643V855A1
Muscle weakness, PEO
-muscle weakness
-PEO
childhood
9n/an/aWong et al, 2008;

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485Y955C1
Resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, periodic depression, dementia, cataracts, Parkinsons.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-dementia
-tremor
childhood
105865Luoma et al, 2004;

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251A889T1
E1143G
presented at age 7 years with gait difficulty and pes cavus. He developed upper extremity tremor, scanning speech, and horizontal nystagmus by age 15. at age 20 showed ptosis, external ophthalmoplegia, mildly decreased vibration and pin prick sensation, intention tremor, absent ankle and brachioradialis reflexes, and ataxic gait. Over the next 5 years, he experienced progression of the ptosis and ophthalmoplegia. The tremor became disabling at rest and with action, and he became wheelchair-dependent.
-movement disorder (ataxia)
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-nystagmus
-tremor
childhood
720n/aHisama et al, 2005;

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431R1187W1
Hepatic failure, myopathy, psychomotor delay. 14-year-old boy born of healthy consanguineous parents. He presented delayed psychomotor development and mus- cular weakness associated with hepatopathy. He had recurrent episodes of cholestasis and cytolysis and liver biopsy showed fibrosis and severe steatosis. He was heterozygous for the p.Arg1187Trp mutation, previously identified in a patient with mitochondrial depletion syndrome and T-cell immunodeficiency.
-myopathy
-liver failure
-psychomotor delay
-cholestasis
juvenile
14n/an/aRouzier et al, 2013;

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335Y951N1
bilateral cataracts, ovarian dysgenesis and distal muscle weakness and atrophy, progressive muscle weakness, seizure like episode, atrophy of arm and hand muscles,
-muscle weakness
juvenile
1823n/aBekheirnia et al, 2012;

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495Y955C1
Parkinsons, resting tremor, ptosis, PEO, Muscle weakness, cataracts, Neuropathy
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
3074n/aLuoma et al, 2004;

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526Y955C1
rigidity with cogwheel phenomenon, bradykinesia, resting tremor and postural instability. Ragged-red fibers as well as fibers with increased subsarcolemmal succinate dehydrogenase activity and decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected. Parkinsons. PEO.
-ragged red fibers
-PEO
-parkinson's disease
-tremor
adult
6073n/aMukai et al, 2013;

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525Y955C1
gait instability, mild parkinsonian features, including cogwheel rigidity and bradykinesia. ragged-red fibers, decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected. PEO.
-ragged red fibers
-PEO
adult
6569n/aMukai et al, 2013;

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519R852C1
G11D
progressive cerebellar syndrome, slurred speech, balance disturbances, mild incoordination, type II diabetes mellitus, dysarthria, mild limb dysmetria, mildly impaired tandem gait, cerebellar ataxia. She had polyminimyoclonus of her outstretched hands, a positive glabellar tap and brisk deep tendon reflexes with flexor plantar responses. She had Rigidity in the legs worse than in the arms, brisk reflexes, and mild bilateral bradykinesia in association with dystonic posturing of the left hand. Dystonia.
-myoclonic seizures
-cerebellar ataxia
-movement disorder (ataxia)
-dysarthria
-dystonia
adult
4958n/aMehta et al, 2011;

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518D1184H1
S998L
bilateral ptosis and external ophthalmoplegia at 64 years of age. at 67 years she was severely cognitively impaired, had severe bilateral ptosis and complete external ophthalmoplegia. Frequent cytochromecoxidase-negative fibres were detected in muscle. Electrophysiological examination revealed myopathic changes and axonal neuropathy. PEO, progressive encephalopathy.
-demyelinating neuropathy
-ptosis
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-encephalopathy
adult
6467n/aMartikainen et al, 2010;

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502H932Y1
R386C
Isolated distal myopathy of the upper extremities, cytochrome c oxidase deficient fibers, muscle weakness. mtDNA depletion. Reduced Deep tendon reflexes in the upper extremities.
-muscle weakness
-myopathy
adult
2427n/aGiordano et al, 2010;

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501A1105T1
PEO, premature menopause, Parkinsons, resting tremor, bradykinesia, ptosis, muscle weakness, cataracts, goitre, head tremor.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
4275n/aLuoma et al, 2004;

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500R953C1
PEO, ptosis, muscle weakness, hypothyreosis, ataxia, asthma, balance disturbance.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
adult
2229n/aLuoma et al, 2004;

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499Y955C1
PEO, premature menupause, ptosis, muscle weakness, cataracts
-muscle weakness
-ptosis
-PEO
adult
3052n/aLuoma et al, 2004;

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498Y955C1
PEO, ptosis, cataracts, rheumatoid arthritis, cardiac failure
-ptosis
-PEO
adult
40n/a67Luoma et al, 2004;

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497Y955C1
Ptosis, PEO, Exercise intolerance, pigmentary retinopathy, neuropathy
-exercise intolerance
-ptosis
-PEO
adult
2830n/aLuoma et al, 2004;

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496Y955C1
Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, cataracts, Neuropathy.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
4973n/aLuoma et al, 2004;

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667Y955C1
Parkinsonism, restless legs syndrome. Good response to levodopa and ropinirole. PEO, cerebellar ataxia, neuropathy, myopathy, sensorineural hearing loss.
-cerebellar ataxia
-movement disorder (ataxia)
-myopathy
-PEO
-parkinson's disease
-hearing loss
adult
4063n/aMartikainen et al, 2016;

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527D890A1
The patient had bilateral cataracts removed in early childhood. He developed chronic diarrhea and weight loss in his 20s, which were associated with a rash that on biopsy showed features of dermatitis herpetiformis. At the age of 35 years, the patient presented with weakness of upper extremities and bilateral ptosis. A muscle biopsy revealed ragged-red fibers and cytochrome c oxidase (COX) negative fibers. impaired upgaze. cachexia. chronic myopathy and severe sensory neuropathy. progressive gastrointestinal dysmotility. mtDNA deletions. hypogonadism, hypothyroidism, and osteopenia.
-ragged red fibers
-myopathy
-ptosis
-GI dysmotility
-diarrhea
-hypothyroidism
adult
2235n/aPrasun and Koeberl, 2014;

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560Y955C1
Ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Loss of weight, Elevated blood CK, Myogenic EMG, Distal sensory neuropathy, areflexia, Psychatric symptoms.
-muscle weakness
-ptosis
-ophthalmoplegia
-dysphagia
-areflexia
adult
2560n/aVan Goethem et al, 2001;

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561Y955C1
Ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Elevated blood CK, Myogenic EMG, ocular symptoms, areflexia.
-muscle weakness
-ptosis
-ophthalmoplegia
-dysphagia
-areflexia
adult
3555n/aVan Goethem et al, 2001;

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562Y955C1
Psychiatric symptoms, ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Elevated blood CK, Myogenic EMG, areflexia, distal sensory neuropathy, hearing loss.
-muscle weakness
-ptosis
-ophthalmoplegia
-dysphagia
-areflexia
-hearing loss
adult
3048n/aVan Goethem et al, 2001;

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563Y955C1
Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia.
-muscle weakness
-ptosis
-ophthalmoplegia
-areflexia
adult
3553n/aVan Goethem et al, 2001;

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564Y955C1
Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia.
-muscle weakness
-ptosis
-ophthalmoplegia
-areflexia
adult
3052n/aVan Goethem et al, 2001;

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565Y955C1
Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia.
-muscle weakness
-ptosis
-ophthalmoplegia
-areflexia
adult
3939n/aVan Goethem et al, 2001;

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566Y955C1
Ocular symptoms, ptosis, areflexia.
-ptosis
-areflexia
adult
3333n/aVan Goethem et al, 2001;

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567Y955C1
Ocular symptoms, ptosis, dysphonia, distal sensoral neuropathy, areflexia, pes cavus.
-ptosis
-areflexia
adult
3232n/aVan Goethem et al, 2001;

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568Y955C1
Neuropathic symptoms, psychiatric symptoms, distal sensoral neuropathy, areflexia, pes cavus.
-areflexia
adult
2829n/aVan Goethem et al, 2001;

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606Y955C1
PEO.
-PEO
adult
n/a31n/aLamantea et al, 2002;

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607Y955C1
PEO.
-PEO
adult
n/a54n/aLamantea et al, 2002;

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608R943H1
adPEO.
-PEO
adult
n/a50n/aLamantea et al, 2002;

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621S1104C1
PEO, bilateral ptosis, severe limitation of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-ptosis
-PEO
adult
42n/an/aAgostino et al, 2003;

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381Y955C1
Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 32 years, proximal muscle weakness, exertional dyspnoea and sensory ataxia, dysphagia.
-movement disorder (ataxia)
-sensory ataxia
-muscle weakness
-ptosis
-PEO
-dysphagia
adult
22n/an/aPagnamenta et al, 2006;

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204R943H1
Age 71 with CPEO and premature ovarian failure.
-PEO
adult
n/a71n/aBlok et al, 2009;

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206Y951N1
Peripheral neuropathy, elevated 3-methylglutaconic acid.
-peripheral neuropathy
adult
n/a22n/aTang et al, 2011;

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209Y955C1
CPEO, myopathy.
-myopathy
-PEO
adult
n/a45n/aTang et al, 2011;

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210Y955C1
CPEO, myopathy. Muscle biopsy showed RRF, multiple mtDNA deletions. Age of onset for three alcoholics ranged from 25-39, and age of death ranged from 54-65.
-myopathy
-PEO
adult
25n/a54Van Goethem et al, 2003a;

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238A889T1
E1143G
Presented with ataxia and transient diplopia at age 25 and showed ptosis, external ophthalmoplegia, nystagmus, had a mild tremor of outstretched hands, marked dysmetria, Romberg sign, severe ataxia, was unable to stand on one foot, multiple mtDNA deletions in muscle.
-movement disorder (ataxia)
-ptosis
-ophthalmoplegia
-diplopia
-external ophthalmoplegia
-nystagmus
-tremor
adult
n/a25n/aHisama et al, 2005;

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239Y955C1
adPEO, multiple mtDNA deletions in muscle tissue.
-PEO
adult
5555n/aKollberg et al, 2005;

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247Y955C1
adPEO, multiple mtDNA deletions in muscle tissue.
-PEO
adult
n/a53n/aKollberg et al, 2005;

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248Y955C1
adPEO, multiple mtDNA deletions in muscle tissue.
-PEO
adult
n/a60n/aKollberg et al, 2005;

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249Y955C1
adPEO, multiple mtDNA deletions in muscle tissue.
-PEO
adult
n/a60n/aKollberg et al, 2005;

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291T914A1
Y452C
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, multiple mtDNA deletions in muscle
-movement disorder (ataxia)
-myopathy
-ptosis
-ophthalmoplegia
-external ophthalmoplegia
-dysphagia
adult
3756n/aEchaniz-Laguna et al, 2010;

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350T851A1
P163S
CPEO, Seizures, neuropathy, ataxia, dysphagia/ dysarthria, bowel pseudo-obstruction,
-movement disorder (ataxia)
-PEO
-GI dysmotility
-dysphagia
-dysarthria
adult
21n/an/aWoodbridge et al, 2012;

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379Q1236H
Y955C1
Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 28 years. proximal muscle weakness, exertional dyspnoea and sensory ataxia, Peripheral neuropathy
-movement disorder (ataxia)
-sensory ataxia
-peripheral neuropathy
-muscle weakness
-ptosis
-PEO
adult
2233n/aPagnamenta et al, 2006;

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380Y955C1
Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 35 years, proximal muscle weakness, exertional dyspnoea and sensory ataxia, dysphagia. At the age of 57, patient III-2 was noted to have a progressive, parkinsonian-like resting tremor and reduced rapid alternating movements affecting her left arm and leg, and mild bradykinesia. ragged-red fibres
-movement disorder (ataxia)
-sensory ataxia
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-dysphagia
-tremor
adult
2257n/aPagnamenta et al, 2006;

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494Y955C1
Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, Neuropathy
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
4950n/aLuoma et al, 2004;

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436D1184N1
CPEO, axonal sensory neuronopathy, parkinsonism. late-onset CPEO with a sensory neuropathy and a Parkinsonian syndrome.
-axonal sensorimotor polyneuropathy
-PEO
-parkinson's disease
adult
70n/an/aRouzier et al, 2013;

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437D1184N1
CPEO, axonal sensory neuronopathy.
-axonal sensorimotor polyneuropathy
-PEO
adult
75n/an/aRouzier et al, 2013;

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438G848S1
T251I
CPEO, multiple mtDNa deletions.
-PEO
adult
45n/an/aRouzier et al, 2013;

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444R943H1
At age 63: CPEO, ptosis, congenital cataracts, vision loss with macular degeneration, hearing loss, dysarthria, dysphagia, sensorimotor polyneuropathy, fatigue, migraine, cardiomyopathy and depression. At age 67, he developed asymmetric resting tremor and impaired balance. Examination at age 71 revealed CPEO, facial diplegia, mild symmetric rigidity, intermittent, pre- dominantly right-sided resting tremor and multidirectional head tremor, bradykinesia, and ataxic gait (broad based stance with inability to tandem). Brain MRI showed mild atrophy and very subtle multifocal subcortical white matter lesions.
-movement disorder (ataxia)
-polyneuropathy
-axonal sensorimotor polyneuropathy
-myopathy
-ptosis
-PEO
-headache/ migraine
-dysphagia
-dysarthria
-tremor
-hearing loss
adult
6371n/aBrandon et al, 2013;

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474F961S1
Mother of Japanese adPEO family. The proband, 69 years female, developed bilateral blepharoptosis and external ophthalmoplegia at forty. She also had slight muscle weakness and atrophy of proximal limbs and neck. Her mother, one of her three siblings and her daughter had same symptoms. Muscle biopsy examination of her and her brother showed several ragged red fibers.
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-ophthalmoplegia
-external ophthalmoplegia
adult
4069n/aAdachi et al, 2002;

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481H945L1
80-year old female patient with a history of PEO, ptosis, childish behaviour, obsessive disorder, cognitive decline, and parkinsonism. Progressive bilateral ptosis in her forties. She also suffered progressive cognitive decline, with difficulties in performing her habitual tasks and a degree of social impairment. In addition, a loss of facial expression had become evident in the last few years. Physical examination showed bilateral ptosis with right predominance, PEO, dysphonia, right hand rest tremor, bilateral mild rigidity and bradykinesia in the upper extremities. A brain MRI scan revealed moderate enlargement of the ventricles and diffuse brain atrophy. muscle biopsy of the biceps brachii demonstrated ragged red fibres based on Gomori staining. Southern blot hybridization analysis identified multiple mtDNA deletions that were confirmed using the long-PCR technique.
-ragged red fibers
-ptosis
-PEO
-parkinson's disease
-tremor
adult
3080n/aDelgado-Alvarado et al, 2015;

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486Y955C1
ptosis, weak achilles tendon reflexes
-ptosis
adult
3338n/aLuoma et al, 2004;

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487Y955C1
Parkinsons, rigidity, bradykinesia, ptosis, PEO, muscle weakness, hypoacusia, premature menopause.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
adult
3067n/aLuoma et al, 2004;

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488Y955C1
Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, Cataracts, presbyacusis, ataxia, premature menopause, neuropathy.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
226061Luoma et al, 2004;

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489Y955C1
PEO, Parkinsons, rigidity, bradykinesia, ptosis, muscle weakness, cataracts, ataxia.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-parkinson's disease
adult
3560n/aLuoma et al, 2004;

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490Y955C1
PEO, Parkinsons, rigidity, resting tremor, bradykinesia, ptosis, muscle weakness, cataracts, ataxia.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
255860Luoma et al, 2004;

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491Y955C1
PEO, Primary amenorrhea, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, muscle weakness, mental retardation, cataracts, ataxia, head tremor
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-retardation
-tremor
adult
2364n/aLuoma et al, 2004;

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492Y955C1
PEO, premature menopause, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, cataracts, ataxia.
-movement disorder (ataxia)
-ptosis
-PEO
-parkinson's disease
-tremor
adult
2162n/aLuoma et al, 2004;

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493Y955C1
PEO, ptosis, muscle weakness
-muscle weakness
-ptosis
-PEO
adult
2333n/aLuoma et al, 2004;

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595E1143G
S433C1
PEO, ataxia, peripheral neuropathy, and episodes of encephalopathy. Asymptomatic mother had also S433C.
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-encephalopathy
unknown
n/an/an/aHudson 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: 68
Avg age of onset in displayed cases: 33.1
Std dev in onset in displayed cases: 18.6

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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