POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations A467T and R275Q.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

292

R275Q3

A467T2

presented with blurred vision, elevated CSF protein, she successively developed various neurological signs, ie, bilateral external ophthalmoplegia, ataxia, hearing impairment, and severe depression, ptosis, myopathy, cardiomyopathy, and dysphagia, Muscle biopsy performed at 63 years of age showed numerous ragged-red fibers and multiple mtDNA deletions

-	movement disorder (ataxia)

-	ragged red fibers

myopathy

ptosis

-	ophthalmoplegia

-	external ophthalmoplegia

dysphagia

adult

n/a

Echaniz-Laguna et al, 2010;

[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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