POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A862T and H277L.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

446

H277L3

A862T1

Ataxia, sensory ataxic neuropathy, with cerebellar features, visual disturbances with diplopia, dysarthria and dysphasia. Multiple mtDNA seletions, COX-negative fibers and ragged red fibers were found in autopsy. Areflexic, absent reflexes, in all limbs, distal weakness and distal sensory loss of proprioception and vibration. She became encephalopathic and febrile.

-	movement disorder (ataxia)

-	sensory ataxia

-	ragged red fibers

-	cox-negative

diplopia

-	dysarthria

adult

McKelvie et al, 2012;

[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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