Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

Abstract 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. T...

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Main Authors: Kristy Iskandar (Author), Sunartini (Author), Farida Niken Astari (Author), Rizki Amalia Gumilang (Author), Nissya Ilma (Author), Ni Putu Shartyanie (Author), Guritno Adistyawan (Author), Grace Tan (Author), Gunadi (Author), Poh San Lai (Author)
Format: Book
Published: BMC, 2022-10-01T00:00:00Z.
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3rd Floor Main Library

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