EMD
Deellabo: | PGD DNA |
Gen (Gen Code): | EMD |
Aliases Gen: | STA; EDMD; LEMD5; EMD |
Gen ID (NCBI): | 2010 |
OMIM Gen ID: | 300384 |
Chromosomale locatie: | Xq28 |
Genetische aandoening / Analyse: | Emery-Dreifus spierdystrofie |
OMIM aandoening ID: | 310300 |
Overerving: | X-linked R |
Aliases aandoening: | EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1 EMD1 MUSCULAR DYSTROPHY, TARDIVE, DREIFUSS-EMERY TYPE, WITH CONTRACTURES SCAPULOPERONEAL SYNDROME, X-LINKED, FORMERLY HUMEROPERONEAL NEUROMUSCULAR DISEASE, FORMERLY |