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H00699                      Disease                                

Central core disease
Central core disease (CCD) is an inherited neuromuscular disorder characterized by central cores on muscle biopsy and clinical features of a congenital myopathy. CCD is usually inherited as an autosomal dominant trait but recessive inheritance has been recently described in few families. The clinical phenotype of dominantly inherited CCD is variable but usually mild and non-progressive; however, more severe forms including the fetal akinesia syndrome have also been reported associated with recessive or de novo dominant mutations. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle. CCD is due to 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 of the RyR protein are considered the main pathogenetic mechanisms.
Musculoskeletal disease; Nervous system disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00699  Central core disease
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G71  Primary disorders of muscles
    H00699  Central core disease
BRITE hierarchy
Calcium signaling pathway
Long-term depression
RYR1 [HSA:6261] [KO:K04961]
Other DBs
PMID:18367042 (description, gene)
D'Amico A, Bertini E
Congenital myopathies.
Curr Neurol Neurosci Rep 8:73-9 (2008)
PMID:18313359 (description, gene)
Treves S, Jungbluth H, Muntoni F, Zorzato F
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
Curr Opin Pharmacol 8:319-26 (2008)
PMID:17504518 (description, gene)
Jungbluth H
Central core disease.
Orphanet J Rare Dis 2:25 (2007)

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