Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study

BACKGROUND AND PURPOSE: Hereditary myopathies with limb‐girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was to present a detailed clinical and genetic characterization of a large cohort of patients with LGW....

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Detalles Bibliográficos
Autores principales: Krenn, Martin, Tomschik, Matthias, Wagner, Matias, Zulehner, Gudrun, Weng, Rosa, Rath, Jakob, Klotz, Sigrid, Gelpi, Ellen, Bsteh, Gabriel, Keritam, Omar, Colonna, Isabella, Paternostro, Chiara, Jäger, Fiona, Lindeck‐Pozza, Elisabeth, Iglseder, Stephan, Grinzinger, Susanne, Schönfelder, Martina, Hohenwarter, Christina, Freimüller, Manfred, Embacher, Norbert, Wanschitz, Julia, Topakian, Raffi, Töpf, Ana, Straub, Volker, Quasthoff, Stefan, Zimprich, Fritz, Löscher, Wolfgang N., Cetin, Hakan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Muscle and NMJ disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314602/
https://www.ncbi.nlm.nih.gov/pubmed/35239206
http://dx.doi.org/10.1111/ene.15306

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