POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R232H and W748S.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

229

W748S5
E1143G

R232H4

Alpers, age of onset 6 months, age of death 13 months. 41% mtDNA copy number. During the first 6 months of life, he was considered healthy, but was irritable with colic-like symptoms. failure to thrive, delayed motor development. myoclonus. leftsided hemiparesis.

-	myoclonic seizures

-	hemiparesis

-	failure to thrive

-	Alpers syndrome

-	encephalopathy

-	developmental delay

epilepsy

infantile

0.5

n/a

1.08

Kollberg et al, 2006;

[view data]

^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.

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