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Autosomal recessive limb-girdle muscular dystrophy type 2H

ORPHA1878
Synonym(s) LGMD2H
Limb-girdle muscular dystrophy due to TRIM32 deficiency
Sarcotubular myopathy
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • G71.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.


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Detailed information

Article for general public
  • EN (2012)
Clinical genetics review
  • EN (2012)
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