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Article

[Myopathy-lipomatosis associated with A8344G mitochondrial DNA mutation].

Revue neurologique - 1 Dec 2003

Auré K, Sternberg D, Maisonobe T, Herson S, Jardel C, Blondy P, Lombès A, Eymard B, Laforêt P

Abstract excerpt

We report the clinical features of two unrelated patients, a 51-year-old woman and a 54-year-old man, presenting proximal myopathy with lipomatosis. In both patients, muscle biopsies showed numerous ragged-red fibers. Molecular analysis were performed with denaturating gradient gel electrophoresi...

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PMID: 14978417

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14978417-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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[Myopathy-lipomatosis associated with A8344G mitochondrial DNA mutation].PMID 14978417Read ↗

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNASemantic proximity Read ↗

Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy?Semantic proximity Read ↗

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").Semantic proximity Read ↗

[Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].Semantic proximity Read ↗

Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.Semantic proximity Read ↗

Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.Semantic proximity Read ↗

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.Semantic proximity Read ↗

Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation.Semantic proximity Read ↗

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