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POMGNT1-related limb-girdle muscular dystrophy R15

Disease definition

A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

ORPHA:206564

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2O
    • LGMD type 2O
    • LGMD2O
    • Limb-girdle muscular dystrophy type 2O
    • POMGNT1-related LGMD R15
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G71.0
  • OMIM: 613157
  • UMLS: -
  • MeSH: -
  • GARD: 12540
  • MedDRA: -

Detailed information

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