Muskeldystrophie Emery-Dreifuss (X-chromosomal rezessiv) Typ 1
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD
OMIM: 310300
Synonyme
- EDMD1
- EDMD1
- EMD1
- MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES
- SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLY
- HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLY
Genorte
- ELOVL5(OMIM 300384)