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Article

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Muscle & nerve - 1 Dec 2017

Papadopoulos Constantinos, LaforÊt Pascal, Nectoux Juliette, Stojkovic Tanya, Wahbi Karim, Carlier Robert-Yves, Carlier Pierre G, Leonard-Louis Sarah, Leturcq France, Romero Norma, Eymard Bruno, Behin Anthony

Abstract excerpt

INTRODUCTION: Patients with anoctamin-5 (ANO5) mutations may present not only with limb-girdle muscular dystrophy type 2L or adult-onset Miyoshi-type myopathy but also with asymptomatic hyperCKemia, exercise intolerance, or rhabdomyolysis. MATERIALS AND METHODS: Data from 38 patients in France with ANO5 mutations with and without muscle weakness on first examination were compared. RESULTS: Twenty patients...

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Identifiers

PMID: 28187523
DOI: 10.1002/mus.25608

Genes

ANO5

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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.

Related research

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Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.PMID 28187523Read ↗

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