Orphanet: Telethonin related limb girdle muscular dystrophy R7
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Telethonin-related limb-girdle muscular dystrophy R7

Disease definition

A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.

ORPHA:34514

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy type 2G
    • LGMD due to telethonin deficiency
    • LGMD type 2G
    • LGMD2G
    • Limb-girdle muscular dystrophy due to telethonin deficiency
    • Limb-girdle muscular dystrophy type 2G
    • Telethonin-related LGMD R7
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Infancy
  • ICD-10: G71.0
  • OMIM: 601954
  • UMLS: C1866008
  • MeSH: -
  • GARD: 10471
  • MedDRA: -

Detailed information

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