Limb-girdle muscular dystrophy
cv_term_accession
KW-0947
canonical
uniprot_keyword
KW-0947
canonical
name
Limb-girdle muscular dystrophy
uniprot
synonym
LGMD
uniprot
synonym
Muscular dystrophy limb-girdle type
uniprot
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.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords