| description | 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 |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
