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Article

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.

Neuromuscular disorders : NMD - 1 Jan 2008

McFarland Robert, Swalwell Helen, Blakely Emma L, He Langping, Groen Emma J, Turnbull Douglass M, Bushby Kate M, Taylor Robert W

Abstract excerpt

We report a family where a predominantly proximal myopathy has become increasingly severe with successive generations of the maternal lineage. This pure myopathy has been caused by a mutation (m.5650G>A) in the mt-tRNA(Ala) gene that has been reported only once previously in a patient with CADASI...

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Source

Identifiers

PMID: 17825557
DOI: 10.1016/j.nmd.2007.07.007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17825557-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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