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Autosomal recessive limb-girdle muscular dystrophy type 2B

Orpha number ORPHA268
Synonym(s) LGMD2B
Limb-girdle muscular dystrophy due to dysferlin deficiency
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adult
ICD-10
  • G71.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved.


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Detailed information

Clinical genetics review
  • EN (2012)
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