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Article

Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.

Neurology - 1 Nov 1998

Austin S A, Vriesendorp F J, Thandroyen F T, Hecht J T, Jones O T, Johns D R

Abstract excerpt

The A-to-G mutation at position 8344 in the transfer RNAlysine mitochondrial DNA gene is associated mostly with the myoclonic epilepsy and ragged red fibers syndrome. We describe a five-generation family with this mutation and 19 affected members with a variant neurologic syndrome of ataxia, myopathy, hearing loss, and neuropathy. Along with axial lipomas and diabetes mellitus, hypertension is a frequent somatic...

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Source

Identifiers

PMID: 9818878
DOI: 10.1212/wnl.51.5.1447

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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