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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

Preferred term

Muscular Dystrophies, Limb-Girdle  

Type

  • mesh:Descriptor

Definition

  • 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).

Broader concept

Narrower concepts

Related concepts

Entry terms

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

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URI

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

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RDF/XML TURTLE JSON-LD Created 7/7/04, last modified 7/8/13