Pathological defects in congenital myopathies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Biochemistry,Physiology
Link
http://link.springer.com/content/pdf/10.1007/s10974-008-9155-8.pdf
Reference48 articles.
1. Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P (2005) Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 37:1207–1209. doi: 10.1038/ng1657
2. Bonnemann CG, Thompson TG, van der Ven PF, Goebel HH, Warlo I, Vollmers B, Reimann J, Herms J, Gautel M, Takada F, Beggs AH, Furst DO, Kunkel LM, Hanefeld F, Schroder R (2003) Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci 206:71–78. doi: 10.1016/S0022-510X(02)00341-6
3. Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A (2007) C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 61:340–351. doi: 10.1002/ana.21089
4. Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN (2006) SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol 59:546–552. doi: 10.1002/ana.20761
5. Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN (2008) Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol 63:329–337. doi: 10.1002/ana.21308
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