'central core'-myopathie (aandoening)
'central core'-myopathie
central core disease
'central core'-ziekte
Aangeboren spierziekte waarbij het centrum van de spiervezels aangetast is.
Central core disease
Central core myopathy
An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).
Associated morphologycentral cores
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermCongenitale myopathie├źn
SNOMED CT to Orphanet simple map597
SNOMED CT to ICD-10 extended map
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified