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Titel:

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

Dokumenttyp:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Autor(en):
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:
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 myopathies. Parameters associated with specific genetic aetiologies were evaluated, and we...     »
Zeitschriftentitel:
Eur J Neurol
Jahr:
2022
Band / Volume:
29
Heft / Issue:
6
Seitenangaben Beitrag:
1815-1824
Volltext / DOI:
doi:10.1111/ene.15306
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35239206
Print-ISSN:
1351-5101
TUM Einrichtung:
Institut für Humangenetik
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