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2 patient data entries in database for clusters G737R and 1 in age group "infantile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
152A957V1
G737R5
Deceased at 9 months. 30% mtDNA copy number in muscle, 30% mtDNA copy number in blood, 10% mtDNA copy number in liver.
-no known symptoms
infantile
n/a0.40.8Tang et al, 2011;

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153V855L1
G737R5
Hypoglycaemia, liver failure, seizures, developmental delay. 65% mtDNA copy number in muscle, ETC low.
-liver failure
-developmental delay
infantile
n/a0.8n/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: 2
Avg age of onset in displayed cases: 0.6
Std dev in onset in displayed cases: 0.2

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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