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Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?

Muscle & nerve - 1 Apr 2000

Muñoz-Málaga A, Bautista J, Salazar J A, Aguilera I, Garcia R, Chinchon I, Segura M D, Campos Y, Arenas J

Abstract excerpt

Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease. We report on two families harboring the 8344 mutation. The patients...

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PMID: 10716764
DOI: 10.1002/(sici)1097-4598(200004)23:4<538::aid-mus12>3.0.co;2-t

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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