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References OMIM Gene GeneReviews HGMD HGNC
last update : 4/04/08
Symbol CCO
Location 19q13.2
Name central core disease of muscle
Other name(s) nemaline rod myopathy
Corresponding gene RYR1
Other symbol(s) CCD
Main clinical features
  • characterized by hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones, with a variable severity of symptoms, a low progressive course
  • associated skeletal defects and microscopically amorphous-looking areas (cores) in the predominant type I fibers
  • also presenting as a severe form associated to malignant hyperthermia susceptibility
  • Genetic determination autosomal dominant
    autosomal recessive
    Prevalence more than 90% of patients with central core disease
    Related entries including cases of centronuclear myopathy (Jungbluth 2007)
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name ryanodine receptor, calcium release channel (RYR1)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mostly missense mutations clustered in the myoplastic domain, clustering in exons 101 and 102 and altering calcium homeostasis (reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release)
    deletion     reduce Ca(2+) release following RYR1 activation
    Genotype/Phenotype correlations
  • patients with C-terminal mutations had earlier onset and rather consistent muscle pathology characterized by the presence of distinct cores in almost all type 1 fibres, interstitial fibrosis and type 2 fibre deficiency
  • in contrast, patients with mutations outside the C-terminal region had milder clinical phenotype and harbour more atypical cores in their muscle fibres