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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Muscular Dystrophies, Limb-Girdle
Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophies, Limb-Girdle
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophies, Limb-Girdle

Terme préférentiel

Muscular Dystrophies, Limb-Girdle  

Type

  • mesh:Descriptor

Définition

  • A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).

Concept générique

Concepts spécifiques

Concepts associés

Synonyme(s)

  • Limb-Girdle Muscular Dystrophies
  • Limb-Girdle Muscular Dystrophy
  • Limb-Girdle Syndrome
  • Muscular Dystrophy, Limb-Girdle
  • Myopathic Limb-Girdle Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-S9ZFHT7J-F

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RDF/XML TURTLE JSON-LD Date de création 07/07/2004, dernière modification le 08/07/2013