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Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz056
Abstract: Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and…
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Keywords:
dreifuss muscular;
performance;
muscular dystrophy;
emery dreifuss ... See more keywords