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Article

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.

Muscle & nerve - 1 Aug 2014

Peverelli Lorenzo, Gold Carl A, Naini Ali B, Tanji Kurenai, Akman H Orhan, Hirano Michio, Dimauro Salvatore

Abstract excerpt

INTRODUCTION: A 61-year-old woman with a 5-year history of progressive muscle weakness and atrophy had a muscle biopsy characterized by a combination of dystrophic features (necrotic fibers and endomysial fibrosis) and mitochondrial alterations [ragged-red, cytochrome c oxidase (COX)-negative fibers]. METHODS: Sequencing of the whole mtDNA, assessment of the mutation load in muscle and accessible nonmuscle...

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Identifiers

PMID: 24711008
DOI: 10.1002/mus.24262
PMCID: PMC4107085

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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