Article
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain : a journal of neurology - 1 Sept 2023
de Bruyn Alexander, Montagnese Federica, Holm-Yildiz Sonja, Scharff Poulsen Nanna, Stojkovic Tanya, Behin Anthony, Palmio Johanna, Jokela Manu, De Bleecker Jan L, de Visser Marianne, van der Kooi Anneke J, Ten Dam Leroy, Domínguez González Cristina, Maggi Lorenzo, Gallone Annamaria, Kostera-Pruszczyk Anna, Macias Anna, Łusakowska Anna, Nedkova Velina, Olive Montse, Álvarez-Velasco Rodrigo, Wanschitz Julia, Paradas Carmen, Mavillard Fabiola, Querin Giorgia, Fernández-Eulate Gorka, Quinlivan Ros, Walter Maggie C, Depuydt Christophe E, Udd Bjarne, Vissing John, Schoser Benedikt, Claeys Kristl G
Abstract excerpt
Anoctamin-5 related muscle disease is caused by biallelic pathogenic variants in the anoctamin-5 gene (ANO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal muscular dystrophy type 3 (MMD3), pseudometabolic myopathy or asymptomatic hyperCKaemia. In this retrospective, observational, multicentre study we gathered a large European cohort of patients with...
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