POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation G1076V.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

217

G1076V3

PEO at age 41, mental retardation at age 4. Progressive bilateral ptosis. Her father and paternal grandmother had long standing historier of bilaterally impaired eye movements. Patients brother and daughter (at 7) are healthy.

ptosis

PEO

-	retardation

adult

n/a

Filosto et al, 2003;

[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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Reference:

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