Orphanet: Distrofia muscular das cinturas, autossómica recessiva, tipo 2N

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POMT2-related limb-girdle muscular dystrophy R14

Disease definition

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).


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2N
    • LGMD type 2N
    • LGMD2N
    • Limb-girdle muscular dystrophy type 2N
    • POMT2-related LGMD R14
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G71.0
  • OMIM: 613158
  • UMLS: -
  • MeSH: -
  • GARD: 12539
  • MedDRA: -

Detailed information

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