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20 patient data entries in database for clusters 1 and 1.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
523A957V1
I1185T1
Myocerebrohepatopathy spectrum (MCHS) disorder. Poor sucking and failure to thrive since, frequent vomiting, developmental regression, developmental delay, emesis, poor weight gain, lethargy. Hypotonia and hepatomegaly. Laboratory tests showed hepatocellular dysfunction and elevated protein and lactate levels in the cerebrospinal fluid. mtDNA depletion. Proximal dominant muscular weakness. All deep tendon reflexes were weak. Myoclonic jerks of the right and left arms were infrequently observed. She died of multiple organ failure caused by hepatic failure at 8 months of age.
-liver failure
-failure to thrive
-hypotonic
-developmental delay
-vomiting
-hepatomegaly
infantile
0.3330.50.666Montassir et al, 2014;

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203A957V1
S933R1
Developmental delay, hypotonia, seizures, muscle weakness elevated transaminases, respiratory deficiency, lactic acidosis, high CSF lactate, elevate pyruvate, high CSF protein, abnormal EEG, abnormal MRI, FTT, hypoglycemia. 37% mtDNA copy number in muscle, 41% mtDNA copy number in blood.
-lactic acidosis
-muscle weakness
-failure to thrive
-hypotonic
-developmental delay
-respiratory deficiency
-hypoglycemia
infantile
n/a0.3n/aTang et al, 2011;

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5G848S1
A143V1
Evidence of maternal inheritance, developmental delay, hypotonia, dementia/encephalopathy, seizures, myoclonic seizures, hepatic failure, elevated transaminases, high CSF lactate, abnormal EEG, leukodystrophy, MRS/lactate peak, abnormal MRI. 71% mtDNA copy number in blood.
-myoclonic seizures
-liver failure
-hypotonic
-encephalopathy
-developmental delay
-dementia
childhood
n/a4n/aTang et al, 2011;

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7G848S1
A143V1
Seizures, intractable seizure, abnormal EEG, abnormal MRI. 43% mtDNA copy number in blood.
-intractable seizure
childhood
n/a8n/aTang et al, 2011;

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8G848S1
A143V1
Leigh disease, developmental delay, FTT, abnormal EEG/MRI, hypotonia, seizures, vomiting, hemiplegia, behavior change. 136% mtDNA copy number in muscle and 57% mtDNA copy number in blood.
-hemiparesis
-failure to thrive
-hypotonic
-developmental delay
-vomiting
-leigh syndrome
childhood
n/a4n/aTang et al, 2011;

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407G888S1
L83P1
Slightly elevated hearing threshold, poor school performance, multifocal partial seizures at age 9. The seizures usually generalized and progressed to status epilepticus. Valproic acid was used for 2 and half months and then was terminated due to acute liver failure. She developed edema and coagulopathy 52 days after starting valproic acid treatment, 3 weeks later developed jaundice and hepatomegaly. Valproic acid stopped, liver function returned to normal after 6 months. After 7 months developed visual loss, axonal peripheral sensory neuropathy
-status epilepticus
-sensomotor neuropathy
-liver failure
-jaundice
-hepatomegaly
childhood
910n/aBao et al, 2008;

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185G848S1
G848S1
Seizures, SIDS/unexplained death, MRS/lactate peak, abnormal MRI, abnormal respiratory enzymes. 7% mtDNA copy number in muscle.
-no known symptoms
childhood
n/a5n/aTang et al, 2011;

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192R964C1
A862T1
Progressively focal motor and tonic-clonic seizures, delayed psychomotor development, sensoriaxonal neuropathy, mild tetraparesis, cerebellar syndrome, intestinal pseudoobstruction, died via refractory status epilepticus.
-status epilepticus
-demyelinating neuropathy
childhood
5n/a23Stricker et al, 2009;

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3G888S1
L83P1
Alpers is reported as diagnosis. Symptoms are cortical blindness, dementia, seizures, hepatopathy and hearing loss.
-dementia
-cortical blindness
-Alpers syndrome
-hearing loss
-encephalopathy
-developmental delay
-epilepsy
childhood
10n/an/aWong et al, 2008;

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193R964C1
A862T1
Progressive cerebellar ataxia, neuropathy, restless legs syndrome, hemihypesthia, myoclonic epileptic seizures, severe ataxia, dysphagia, muscle strength preserved, migraines, headaches, abdominal pain, death via prolonged status epilepticus.
-status epilepticus
-cerebellar ataxia
-movement disorder (ataxia)
-headache/ migraine
-dysphagia
juvenile
15n/a27Stricker et al, 2009;

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216R964C1
A962T1
Ataxia, muscle weakness, central hypoventilation. 119% mtDNA copy number in blood.
-movement disorder (ataxia)
-muscle weakness
juvenile
n/a14n/aTang et al, 2011;

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191R964C1
A862T1
Onset 17 years with ataxia, exercise intolerance, cerbellar atrophy, SCAE, seizures, dementia.
-movement disorder (ataxia)
-exercise intolerance
-dementia
juvenile
17n/an/aWong et al, 2008;

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77W918R1
M430L1
Onset at 32 years with ptosis, PEO.
-ptosis
-PEO
adult
32n/an/aFerreira et al, 2011;

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337R953C1
R953C1
gait abnormalities and PEO, cognitive impairment and depressive and psychotic symptoms, masked face, bradykinesia, action tremor, stooped posture, rigidity, complete ophthalmoplegia, and mild proximal limb weakness, sensory polyneuropathy, myopathy, mild cardiomyopathy, Multiple mtDNA deletions in muscle
-polyneuropathy
-myopathy
-PEO
-ophthalmoplegia
-tremor
adult
2035n/aGurgel-Giannetti et al, 2012;

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406R964C1
R964C1
34-year-old HIV-1–infected Thai woman who had been asymptomatic until the development of Pneumocystis jiroveci pneumonia. She had suffered from severe lactic acidosis after 1 year of use of d4T and lamivudine (3TC). Her peak lactate level was 67 mg/dL, and paresthesia was still present in both legs after 15 years of cessation of d4T treatment. Severe lactic acidosis induced by 1 year of treatment with d4T.
-lactic acidosis
adult
n/a34n/aYamanaka et al, 2007;

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76W918R1
M430L1
PEO, muscle weakness, and later onset levodopa-responsive pseudo-orthostatic tremor with Parkinsonism.
-muscle weakness
-PEO
-parkinson's disease
-tremor
adult
30n/an/aInvernizzi et al, 2008;

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517S1104C1
G848S1
Ataxia, Dementia, Peripheral neuropathy, Areflexia, Myopathy, fatigue, depression, Ophthalmoplegia, Dysarthria, Osteoporosis, arPEO.
-movement disorder (ataxia)
-peripheral neuropathy
-myopathy
-PEO
-ophthalmoplegia
-dementia
-dysarthria
-areflexia
adult
2259n/aLax et al, 2012b;

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6G848S1
A143V1
Ataxia, peripheral neuropathy, hearing loss, abnormal MRI, COX deficiency, developmental delay, seizure, delayed gastric emptying, CPK abnormalities, sister died at 2.5 years. 111% mtDNA copy number in blood. Patient II-49.
-movement disorder (ataxia)
-peripheral neuropathy
-developmental delay
-delayed gastric emptying
-CPK abnormalities
-hearing loss
adult
n/a38n/aTang et al, 2011;

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574G848S1
S1104C1
The patient first presented at the age of 22 years with left-sided ptosis, which slowly progressed over the next 20 years to an almost complete ophthalmoplegia. He developed proximal muscle weakness at age 50 and his first Parkinsonian features at age 51. rigidity, tremor, bradykinesia and difficulty performing fine motor tasks. Proximal myopathy. sensorimotor neuropathy. Dysphagia.
-muscle weakness
-myopathy
-ptosis
-ophthalmoplegia
-dysphagia
-tremor
adult
225759Betts-Henderson et al, 2009;

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609G923D1
G923D1
adPEO.
-PEO
adult
n/a32n/aLamantea et al, 2002;

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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: 20
Avg age of onset in displayed cases: 16.1
Std dev in onset in displayed cases: 11.8

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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