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Article

Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.

Journal of neuromuscular diseases - 1 Jan 2020

Vázquez José, Lefeuvre Claire, Escobar Rosa Elena, Luna Angulo Alexandra Berenice, Miranda Duarte Antonio, Delia Hernandez Alma, Brisset Marion, Carlier Robert-Yves, Leturcq France, Durand-Canard Marie-Christine, Nicolas Guillaume, Laforet Pascal, Malfatti Edoardo

Abstract excerpt

BACKGROUND: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia. OBJECTIVE: To describe clinic, histologic, genetic and imaging features, of ANO5 mutated patients. METHODS: Five patients, four from France (P1, P2, P3 and P4) and one from Mexico (P5), from four...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32925086
DOI: 10.3233/JND-200515

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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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