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Autosomal recessive limb-girdle muscular dystrophy type 2N

Disease definition

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.

ORPHA:206559

  • Synonym(s):
    • LGMD2N
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G71.0
  • OMIM: 613158
  • UMLS: -
  • MeSH: -
  • GARD: 12539
  • MedDRA: -

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