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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Publicat a:EBioMedicine
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Research paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7000448/
https://ncbi.nlm.nih.gov/pubmed/31862442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2019.11.048
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