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Autosomal recessive limb-girdle muscular dystrophy type 2G

Disease definition

Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement.

ORPHA:34514

  • Synonym(s):
    • LGMD2G
    • Limb-girdle muscular dystrophy due to telethonin deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Infancy
  • ICD-10: G71.0
  • OMIM: 601954
  • UMLS: -
  • MeSH: -
  • GARD: 10471
  • MedDRA: -

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