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Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
Hum Mol Genet. 2001 Oct 15;10(22):2581-92. doi: 10.1093/hmg/10.22.2581.
Hum Mol Genet. 2001.
PMID: 11709545
Central core disease: clinical, pathological, and genetic features.
Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA.
Quinlivan RM, et al.
Arch Dis Child. 2003 Dec;88(12):1051-5. doi: 10.1136/adc.88.12.1051.
Arch Dis Child. 2003.
PMID: 14670767
Free PMC article.
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