Article
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
European journal of neurology - 1 Jun 2022
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
Abstract excerpt
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. METHODS: This nationwide cohort study included patients with LGW suspected to be associated with hereditary...
Topics
- Anoctamins
- Austria
- Cohort Studies
- Humans
- Muscle Weakness
- Muscular Diseases
- Muscular Dystrophies, Limb-Girdle
- Mutation