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Autosomal recessive limb-girdle muscular dystrophy type 2K

ORPHA86812
Synonym(s) LGMD2K
Limb-girdle muscular dystrophy-intellectual disability syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • G71.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Limb-girdle muscular dystrophy type 2K (LGMD2K) is characterised by the onset of muscle wasting during childhood, associated with intellectual deficit. Moderate muscular hypertrophy and microcephaly are also present. So far, the syndrome has been described in ten boys, the majority of whom came from consanguineous Turkish families. LGMD2K is caused by mutations in the POMT1 gene (chromosome 9) encoding O-mannosyltransferase 1, an enzyme involved in protein glycosylation.


Last update: February 2007

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