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Autosomal dominant limb-girdle muscular dystrophy type 1G

Disease definition

A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.


Classification level: Disorder
  • Synonym(s):
    • LGMD1G
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Adolescent
  • ICD-10: G71.0
  • OMIM: 609115
  • UMLS: C1836765
  • MeSH: -
  • GARD: 12531
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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