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

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...

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Detalles Bibliográficos
Autores principales: Iskandar, Kristy, Sunartini, Astari, Farida Niken, Gumilang, Rizki Amalia, Ilma, Nissya, Shartyanie, Ni Putu, Adistyawan, Guritno, Tan, Grace, Gunadi, Lai, Poh San
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9575219/
https://www.ncbi.nlm.nih.gov/pubmed/36253810
http://dx.doi.org/10.1186/s12887-022-03662-y

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