N. Monnier, N. Romero, and J. Lerale, Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor, Human Molecular Genetics, vol.10, issue.22, pp.2581-2592, 2001.
DOI : 10.1093/hmg/10.22.2581

S. Shepherd, F. Ellis, J. Halsall, P. Hopkins, and R. Robinson, RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene, Journal of Medical Genetics, vol.41, issue.3, pp.41-74, 2004.
DOI : 10.1136/jmg.2003.014274

C. Bruno and C. Minetti, Congenital myopathies, Current Neurology and Neuroscience Reports, vol.99, issue.1, pp.68-73, 2004.
DOI : 10.1007/s11910-004-0015-7

A. Taratuto, Congenital myopathies and related disorders, Current Opinion in Neurology, vol.15, issue.5, pp.15-553, 2002.
DOI : 10.1097/00019052-200210000-00006