POLG Pathogenicity Prediction Server

1 patient data entry in database for mutation D1184H.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

518

D1184H1

S998L

bilateral ptosis and external ophthalmoplegia at 64 years of age. at 67 years she was severely cognitively impaired, had severe bilateral ptosis and complete external ophthalmoplegia. Frequent cytochromecoxidase-negative fibres were detected in muscle. Electrophysiological examination revealed myopathic changes and axonal neuropathy. PEO, progressive encephalopathy.

-	demyelinating neuropathy

ptosis

PEO

-	ophthalmoplegia

-	external ophthalmoplegia

-	encephalopathy

adult

n/a

Martikainen 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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