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Emery-Dreifuss muscular dystrophy 2, autosomal dominant
rareEmery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
- Identifiers
- MONDO:0021569 OMIM:159001OMIM:181350Orphanet:264
- Causal genes
- LMNA
- Part of
- Autosomal dominant Emery-Dreifuss muscular dystrophyMuscular dystrophy, limb-girdle, autosomal dominant
- Also known as
- autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA · benign scapuloperoneal muscular dystrophy with cardiomyopathy · EDMD2 · EMD2 · Hauptmann-Thannhauser muscular dystrophy
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