GenTIGSA Gene Database on Rare Genetic Disorders
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Emery-Dreifuss Muscular Dystrophy  
Disease Aliases (46)

Autosomal dominant emery dreifuss muscular dystrophy

Autosomal dominant emery-dreifuss muscular dystrophy

Cardiomyopathy, dilated, with quadriceps myopathy

Edmd2

Edmd2 - autosomal dominant emery-dreifuss muscular dystrophy

Emd2

Emery-dreifuss muscular dystrophy, autosomal dominant

Emery dreifuss muscular dystrophy 2

Emery dreifuss muscular dystrophy, autosomal dominant

Emery-dreifuss muscular dystrophy 2

Emery-dreifuss muscular dystrophy 2, autosomal dominant

Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2

Hauptmann-thannhauser muscular dystrophy

Hauptmann thannhauser muscular dystrophy

Lgmd1b

Lgmd1b, formerly

Lmna autosomal dominant limb-girdle muscular dystrophy

Lmna-related dilated cardiomyopathy

Lmna-related emery-dreifuss muscular dystrophy, autosomal

Limb-girdle muscular dystrophy type 1b

Limb-girdle muscular dystrophy, type 1b

Muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant

Muscular dystrophy, limb-girdle, type 1b, formerly

Muscular dystrophy, proximal, type 1b, formerly

Muscular dystrophy, emery-dreifuss, autosomal dominant

Muscular dystrophy, limb-girdle, type 1b

Muscular dystrophy, proximal, type 1b

Scapuloilioperoneal atrophy with cardiopathy

Autosomal dominant

Autosomal dominant limb-girdle muscular dystrophy caused by mutation in lmna

Autosomal dominant limb-girdle muscular dystrophy type 1b

Benign scapuloperoneal muscular dystrophy with cardiomyopathy

Cardiomyopathy

Dilated

Emery-dreifuss muscular dystrophy

Formerly

Limb-girdle

Limb-girdle muscular dystrophy due to lamin a/c deficiency

Muscular dystrophy with early contractures and cardiomyopathy

Muscular dystrophy, limb-girdle type 1b

Muscular dystrophy, limb-girdle, type 1b; lgmd1b

Proximal

Proximal muscular dystrophy type 1b

Type 1b

With quadriceps myopathy

Associated Genes (1)
 

NCBI-RefSeq:  LMNA   (Lamin A/C)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Emery-Dreifuss muscular dystrophy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations