Emery-Dreifuss muscular dystrophy 2, autosomal dominant

MONDO:0021569

Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.

Also known as: EDMD2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Hauptmann-Thannhauser muscular dystrophy, LGMD1B, LMNA autosomal dominant limb-girdle muscular dystrophy, autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA, limb-girdle muscular dystrophy due to lamin A/C deficiency, muscular dystrophy, limb-girdle type 1B

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