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Autosomal recessive limb-girdle muscular dystrophy type 2A

Orpha number ORPHA267
Synonym(s) LGMD2A
Limb-girdle muscular dystrophy due to calpain deficiency
Primary calpainopathy
Prevalence 1-9 / 100 000
Inheritance Autosomal recessive
Age of onset All ages
ICD-10
  • G71.0
ICD-O -
OMIM
UMLS
  • C1869123
MeSH -
MedDRA -
SNOMED CT -

Summary

Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances.


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Detailed information

Summary information
Clinical genetics review
  • EN (2012)
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