???Cap disease??????a failure in the correct muscle fibre formation, Journal of the Neurological Sciences, vol.201, issue.1-2, pp.27-31, 2002. ,
DOI : 10.1016/S0022-510X(02)00156-9
"Cap disease": New congenital myopathy, Neurology, vol.31, issue.9, pp.1113-1133, 1981. ,
DOI : 10.1212/WNL.31.9.1113
Cap disease caused by heterozygous deletion of the ??-tropomyosin gene TPM2, Neuromuscular Disorders, vol.17, issue.6, pp.433-475, 2007. ,
DOI : 10.1016/j.nmd.2007.02.015
Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the ??-Tropomyosin Gene (TPM2), Archives of Neurology, vol.64, issue.9, pp.1334-1342, 2007. ,
DOI : 10.1001/archneur.64.9.1334
A mutation in the ?? tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy, Nature Genetics, vol.328, issue.1, pp.75-84, 1995. ,
DOI : 10.1038/ng0195-75
are a common cause of congenital fiber type disproportion, Annals of Neurology, vol.102, issue.3, pp.329-366, 2008. ,
DOI : 10.1002/ana.21308
URL : https://hal.archives-ouvertes.fr/inserm-00410305
TPM3 mutation in one of the original cases of cap disease, Neurology, vol.72, issue.22, pp.1961-1964, 2009. ,
DOI : 10.1212/WNL.0b013e3181a82659
A TPM3 mutation causing cap myopathy, Neuromuscular Disorders, vol.19, issue.10, pp.685-693, 2009. ,
DOI : 10.1016/j.nmd.2009.06.365
URL : https://hal.archives-ouvertes.fr/inserm-00515876
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms, Human Molecular Genetics, vol.13, issue.16, pp.1727-1770, 2004. ,
DOI : 10.1093/hmg/ddh185
Clinical course correlates poorly with muscle pathology in nemaline myopathy, Neurology, vol.60, issue.4, pp.665-73, 2003. ,
DOI : 10.1212/01.WNL.0000046585.81304.BC
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation, Neurology, vol.70, issue.2, pp.114-136, 2008. ,
DOI : 10.1212/01.wnl.0000269792.63927.86
Structure of the mid-region of tropomyosin: Bending and binding sites for actin, Proceedings of the National Academy of Sciences, vol.102, issue.52, pp.18878-83, 2005. ,
DOI : 10.1073/pnas.0509269102
Cap disease due to mutation of the beta-tropomyosin gene (TPM2), Neuromuscular Disorders, vol.19, issue.5, pp.348-51, 2009. ,
DOI : 10.1016/j.nmd.2009.03.003