Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type.
Synonyms: Disease, LMNA-Linked, Disease, LMNA-Associated, Laminopathies, LMNA-Associated Diseases, Laminopathy, LMNA Linked Diseases, LMNA Associated Diseases, LMNA-Linked Diseases, LMNA-Linked Disease, LMNA-Associated Disease
Instance information
2021
D000083083