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Concept information

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

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Laminopathies  

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Tipo

  • mesh:Descriptor

Definición

  • 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.

Concepto genérico

Conceptos específicos

Etiquetas alternativas

  • LMNA-Associated Diseases
  • LMNA-Linked Diseases

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-QTG9QSQQ-G

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RDF/XML TURTLE JSON-LD Creado 7/7/20, última modificación 28/2/20