Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
LMNA
Lamin A/C




1q22
* Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* restrictive dermopathy - (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
* Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)