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Article

Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2020

Seguí Ferran, Gonzalez-Quereda Lidia, Sanchez Aurora, Matas-García Ana, Garrabou Gloria, Rodriguez Maria José, Gallano Pia, Grau Josep Maria, Milisenda José César

Abstract excerpt

OBJECTIVE: Anoctamin 5 (ANO5) is a putative intracellular calcium-activated chloride channel. Recessive mutations in ANO5 may present from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. Here we describe the clinical, pathological, and molecular findings of three unrelated patients with ANO5-related muscular dystrophy. METHODS: In this retrospective study, we...

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PMID: 32399949
DOI: 10.1007/s10072-020-04453-y

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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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