Article
Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
BMC pediatrics - 17 Oct 2022
Iskandar Kristy, Sunartini, Astari Farida Niken, Gumilang Rizki Amalia, Ilma Nissya, Shartyanie Ni Putu, Adistyawan Guritno, Tan Grace, Gunadi, Lai Poh San
Abstract excerpt
BACKGROUND: Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies. Mutation of the lamin A/C (LMNA) gene, which causes EDMD, also causes many other diseases. There is inter and intrafamilial variability in clinical presentations. Precise diagnosis can help in patient surveillance,...
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