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Autosomal recessive limb-girdle muscular dystrophy type 2F

Orpha number ORPHA219
Synonym(s) Delta-sarcoglycanopathy
LGMD2F
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • G71.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, cardiomyopathy and respiratory impairment. LGMD2F is caused by a deficit of a sarcoglycan protein (δ-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy.


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Detailed information

Clinical genetics review
  • EN (2012)
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