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, LMNA-Associated Diseases, Laminopathies, Laminopathy, LMNA Linked Diseases, LMNA Associated Diseases, LMNA-Linked Diseases, LMNA-Linked Disease, LMNA-Associated Disease

Instance information

comment

2021

identifier

D000083083

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