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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Laminopathies

Preferred term

Laminopathies  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Entry terms

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

Scope note

  • 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.

History note

  • 2021

In other languages

URI

http://www.yso.fi/onto/mesh/D000083083

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