POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation T914A.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

291

T914A1

Y452C

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, multiple mtDNA deletions in muscle

-	movement disorder (ataxia)

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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