TPM2 mutation, Neuromuscular Disorders, vol.18, issue.12, p.1005, 2008. ,
DOI : 10.1016/j.nmd.2008.07.007
Congenital Fiber Type Disproportion???30 Years On, Journal of Neuropathology & Experimental Neurology, vol.62, issue.10, pp.977-989, 2003. ,
DOI : 10.1093/jnen/62.10.977
: Associated with congenital fiber-type disproportion and insulin resistance, Annals of Neurology, vol.61, issue.3, pp.546-552, 2006. ,
DOI : 10.1002/ana.20761
The pathogenesis ofACTA1-related congenital fiber type disproportion, Annals of Neurology, vol.62, issue.6, pp.552-561, 2007. ,
DOI : 10.1002/ana.21112
are a common cause of congenital fiber type disproportion, Annals of Neurology, vol.102, issue.3, pp.329-337, 2008. ,
DOI : 10.1002/ana.21308
URL : https://hal.archives-ouvertes.fr/inserm-00410305
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis, Neuromuscular Disorders, vol.17, issue.4, pp.276-284, 2007. ,
DOI : 10.1016/j.nmd.2006.12.010
Single section Western blot: Improving the molecular diagnosis of the muscular dystrophies, Neurology, vol.61, issue.1, pp.93-97, 2003. ,
DOI : 10.1212/01.WNL.0000069460.53438.38
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations, Neuromuscular Disorders, vol.14, issue.12, pp.785-790, 2004. ,
DOI : 10.1016/j.nmd.2004.08.006
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores, Neurology, vol.59, issue.2, pp.284-287, 2002. ,
DOI : 10.1212/WNL.59.2.284
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene, Neurology, vol.65, issue.12, pp.1930-1935, 2005. ,
DOI : 10.1212/01.wnl.0000188870.37076.f2
Actin mutations are one cause of congenital fibre type disproportion, Annals of Neurology, vol.400, issue.5, pp.689-694, 2004. ,
DOI : 10.1002/ana.20260
) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion, Human Mutation, vol.59, issue.2, pp.176-183, 2009. ,
DOI : 10.1002/humu.21157
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
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
in malignant hyperthermia and central core disease, Human Mutation, vol.12, issue.10, pp.977-989, 2006. ,
DOI : 10.1002/humu.20356
Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies, The American Journal of Human Genetics, vol.79, issue.5, pp.859-868, 2006. ,
DOI : 10.1086/508500