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Keyword - Limb-girdle muscular dystrophy (KW-0947)

Definition

Protein which, if defective, causes limb-girdle muscular dystrophy, a degenerative myopathy without nervous system involvement. The disease is characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. Onset of symptoms is in late childhood, adolescence or even adult life. Limb-girdle muscular dystrophy is a genetically heterogeneous disorder. Inheritance can be autosomal dominant or autosomal recessive.

Synonyms

  • LGMD
  • Muscular dystrophy limb-girdle type

Category

Disease

Graphical

Limb-girdle muscular dystrophyDisease

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