POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A862T and R1081Q.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

195

R1081Q3

A862T1

Onset at 2.5 years with epilepsy, diagnosed as Alpers. Complex IV 33%. showed psychomotor regression around age 2.5 years, and developed repetitive generalized tonic–clonic seizures. Myoclonic jerks.

epilepsy

-	Alpers syndrome

-	encephalopathy

-	developmental delay

childhood

n/a

Ferreira et al, 2011;

[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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