POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation F961S.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

474

F961S1

Mother of Japanese adPEO family. The proband, 69 years female, developed bilateral blepharoptosis and external ophthalmoplegia at forty. She also had slight muscle weakness and atrophy of proximal limbs and neck. Her mother, one of her three siblings and her daughter had same symptoms. Muscle biopsy examination of her and her brother showed several ragged red fibers.

-	ragged red fibers

-	muscle weakness

ptosis

PEO

-	ophthalmoplegia

-	external ophthalmoplegia

adult

n/a

Adachi et al, 2002;

[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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Allele 1:	Allele 2:

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