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2 patient data entries in database for clusters G737R and 2 in age group "infantile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
151A767D2
G737R5
Onset at 0.8 years with encephalopathy, liver dysfunction, diagnosed as Alpers. Death at 1 year.
-liver dysfunction
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
0.8n/a1Horvath et al, 2006;

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535A767D2
G737R5
Epilepsy, Myopathy.
-epilepsy
-myopathy
infantile
n/a1n/aSitarz et al, 2014;

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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: 2
Avg age of onset in displayed cases: 0.9
Std dev in onset in displayed cases: 0.1

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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