Laminopathies

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.

Year introduced: 2021

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Tree Number(s): C16.320.488

MeSH Unique ID: D000083083

Entry Terms:

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

Previous Indexing:

• Cardiomyopathies (2002-2020)
• Lamin Type A/genetics (2002-2020)
• Neuromuscular Diseases (2002-2020)

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Laminopathies
Autosomal Emery-Dreifuss Muscular Dystrophy
Cardiomyopathy, Dilated
Lipodystrophy, Familial Partial
Progeria