Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates, European Journal of Pediatrics, vol.38, issue.5, pp.517-540, 2008. ,
DOI : 10.1007/s00431-007-0539-3
URL : https://hal.archives-ouvertes.fr/hal-00283099
Diagnostic profile of neonatal hypotonia: an 11-year study, Pediatric Neurology, vol.25, issue.1, pp.32-39, 2001. ,
DOI : 10.1016/S0887-8994(01)00277-6
Pathological defects in congenital myopathies, Journal of Muscle Research and Cell Motility, vol.37, issue.2, pp.231-239, 2008. ,
DOI : 10.1007/s10974-008-9155-8
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease, Proceedings of the National Academy of Sciences, vol.96, issue.7, pp.4164-4173, 1999. ,
DOI : 10.1073/pnas.96.7.4164
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.2581-92, 2001. ,
DOI : 10.1093/hmg/10.22.2581
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene, Annals of Neurology, vol.276, issue.11, pp.750-759, 2002. ,
DOI : 10.1002/ana.10231
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia, Brain, vol.126, issue.11, pp.2341-2350, 2003. ,
DOI : 10.1093/brain/awg244
URL : http://doi.org/10.1093/brain/awg244
Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle., Proc. Natl. Acad. Sci, pp.2270-2274, 1994. ,
DOI : 10.1073/pnas.91.6.2270
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores, Human Mutation, vol.130, issue.5, pp.670-678, 2008. ,
DOI : 10.1002/humu.20696
URL : https://hal.archives-ouvertes.fr/inserm-00381934
Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers, Mayo Clin Proc, vol.46, pp.666-81, 1971. ,
Familial multicore disease with focal loss of cross-striations and ophthalmoplegia, Journal of the Neurological Sciences, vol.52, issue.1, pp.1-10, 1981. ,
DOI : 10.1016/0022-510X(81)90129-5
The floppy weak infant revisited, Brain and Development, vol.25, issue.3, pp.155-163, 2003. ,
DOI : 10.1016/S0387-7604(02)00168-7
The floppy infant: contribution of genetic and metabolic disorders, Brain and Development, vol.25, issue.7, pp.457-76, 2003. ,
DOI : 10.1016/S0387-7604(03)00066-4
When contractile proteins go bad: the sarcomere and skeletal muscle disease, BioEssays, vol.24, issue.8, pp.809-831, 2007. ,
DOI : 10.1002/bies.20269
MTM1 mutations in X-linked myotubular myopathy, Human Mutation, vol.2, issue.5, pp.393-409, 2000. ,
DOI : 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R