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Article

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Neuromuscular disorders : NMD - 1 Oct 2016

Ng Yi Shiau, Hardy Steven A, Shrier Venice, Quaghebeur Gerardine, Mole David R, Daniels Matthew J, Downes Susan M, Freebody Jane, Fratter Carl, Hofer Monika, Nemeth Andrea H, Poulton Joanna, Taylor Robert W

Abstract excerpt

Mitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable diagnostic muscle biopsy. Subsequent multi-system manifestations included basal ganglia calcification, proteinuria,...

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Identifiers

PMID: 27618137
DOI: 10.1016/j.nmd.2016.08.009
PMCID: PMC5066368

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Source receipt: pubmed, retrieved 7 Sept 2026.

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