LMNA
Deellabo: | PGD DNA |
Gen (Gen Code): | LMNA |
Aliases Gen: | FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; PRO1; CDCD1; CMD1A; LMNL1; CMT2B1; LGMD1B; LMNA |
Gen ID (NCBI): | 4000 |
OMIM Gen ID: | 150330 |
Chromosomale locatie: | 1q22 |
Genetische aandoening / Analyse: | Emery-Dreifus musculaire dystrofie 2 (EMD2) |
OMIM aandoening ID: | 181350 |
Overerving: | AD |
Aliases aandoening: | EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2 EMERY-DREIFUSS MUSCULAR DYSTROPHY 2; EMD2 SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY |