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Article

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.

Archives of neurology - 1 Jan 2011

Lodi Raffaele, Tonon Caterina, Valentino Maria Lucia, Manners David, Testa Claudia, Malucelli Emil, La Morgia Chiara, Barboni Piero, Carbonelli Michele, Schimpf Simone, Wissinger Bernd, Zeviani Massimo, Baruzzi Agostino, Liguori Rocco, Barbiroli Bruno, Carelli Valerio

Abstract excerpt

OBJECTIVE: To assess whether impaired energy metabolism in skeletal muscle is a hallmark feature of patients with dominant optic atrophy due to several different mutations in the OPA1 gene. DESIGN: We used phosphorus 31 magnetic resonance spectroscopy to assess calf muscle oxidative metabolism in subjects with molecularly defined dominant optic atrophy carrying different mutations in the OPA1 gene. In a subset of...

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Share to Adenosine Triphosphate
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to GTP Phosphohydrolases

Share to Muscle, Skeletal

Share to Mutation, Missense

Share to Optic Atrophy, Autosomal Dominant

Share to Oxidative Phosphorylation

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Source

Identifiers

PMID: 20837821
DOI: 10.1001/archneurol.2010.228

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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