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Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

Muscle & nerve - 1 Aug 2016

Claeys Kristl G, Abicht Angela, Häusler Martin, Kleinle Stephanie, Wiesmann Martin, Schulz Jörg B, Horvath Rita, Weis Joachim

Abstract excerpt

INTRODUCTION: Neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) is caused by m.8993T>G/C mutations in the mitochondrial adenosine triphosphate synthase subunit 6 gene (MT-ATP6). Traditionally, heteroplasmy levels between 70% and 90% lead to NARP, and >90% result in Leigh syndrome. METHODS: In this study we report a 30-year-old man with NARP and m.8993T>G in MT-ATP6. RESULTS: Although the patient...

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Identifiers

PMID: 27015314
DOI: 10.1002/mus.25125

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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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