Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Laminopathies
Description
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. MeSH
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Subtype Terms (4)
Autosomal Emery-Dreifuss Muscular Dystrophy
Cardiomyopathy, Dilated
58 drugs (33 approved, 25 experimental)
Lipodystrophy, Familial Partial
7 drugs (3 approved, 4 experimental)
Progeria
7 drugs (4 approved, 3 experimental)
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UMLS Data
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