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Autosomal recessive limb-girdle muscular dystrophy type 2H

Disease definition

Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting.


  • Synonym(s):
    • LGMD2H
    • Limb-girdle muscular dystrophy due to TRIM32 deficiency
    • Sarcotubular myopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G71.0
  • OMIM: 254110
  • UMLS: -
  • MeSH: -
  • GARD: 3844
  • MedDRA: -

Detailed information

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Additional information

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