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

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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Bibliographic Details
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
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:EBioMedicine
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396419307972

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http://www.sciencedirect.com/science/article/pii/S2352396419307972

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