autosomaal recessieve 'limb-girdle'-spierdystrofie type 2K (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2K
Autosomal recessive limb girdle muscular dystrophy type 2K
Limb girdle muscular dystrophy with intellectual disability syndrome
Limb-girdle muscular dystrophy type 2K has characteristics of 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. The disease is caused by mutations in the POMT1 gene (chromosome 9) encoding O-mannosyltransferase 1, an enzyme involved in protein glycosylation.
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified