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4 patient data entries in database for mutations A143V and G848S.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
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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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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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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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: 4
Avg age of onset in displayed cases: 13.5
Std dev in onset in displayed cases: 14.2

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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