POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations R309L and Q968E.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

653

Q968E

R309L3

progressive external ophthalmoplegia (PEO) and negative family history. At the age of 38, she observed impaired eye movements and ptosis. Skeletal muscle biopsy disclosed ragged red fibres. Multiple mtDNA deletions were present in muscle tissue.

-	ragged red fibers

ptosis

PEO

-	ophthalmoplegia

-	external ophthalmoplegia

adult

n/a

Kaliszewska et al, 2015;

[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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