Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort

Abstract 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 hyperCKae...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2023-09, Vol.146 (9), p.3800-3815
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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