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

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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Autori principali: Iskandar, Kristy, Sunartini, Sunartini, Astari, Farida Niken, Gumilang, Rizki Amalia, Ilma, Nissya, Shartyanie, Ni Putu, Adistyawan, Guritno, Tan, Grace, Gunadi, Gunadi, Lai, Poh San
Natura: Articolo
Lingua:English
Pubblicazione: Springer 2022
Soggetti:
Clinical Sciences
Accesso online:https://repository.ugm.ac.id/278707/1/Iskandar_KKMK.pdf

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https://repository.ugm.ac.id/278707/1/Iskandar_KKMK.pdf

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