Article
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
EBioMedicine - 1 Jan 2020
Meinke Peter, Kerr Alastair R W, Czapiewski Rafal, de Las Heras Jose I, Dixon Charles R, Harris Elizabeth, Kölbel Heike, Muntoni Francesco, Schara Ulrike, Straub Volker, Schoser Benedikt, Wehnert Manfred, Schirmer Eric C
Abstract excerpt
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, and life-threatening heart conduction disturbances with wide intra- and inter-familial clinical variability. Roughly...
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