A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

Background: As genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes. We applied this to Emery-Dreifuss muscular dystrophy (EDMD), characterised by early onset contractures, slowly progressive muscular wasting,...

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Main Authors: Peter Meinke, Alastair R.W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Charles R. Dixon, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C. Schirmer
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020-01-01
Colecção:EBioMedicine
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2352396419307972
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