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Genetics of congenital nemaline myopathy: a study of 10 families.
Wallgren-Pettersson C, Kääriäinen H, Rapola J, Salmi T, Jääskeläinen J, Donner M. Wallgren-Pettersson C, et al. J Med Genet. 1990 Aug;27(8):480-7. doi: 10.1136/jmg.27.8.480. J Med Genet. 1990. PMID: 2213842 Free PMC article.
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C. Lehtokari VL, et al. Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2. Neuromuscul Disord. 2011. PMID: 21724397
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C. Marttila M, et al. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1. Hum Mutat. 2014. PMID: 24692096 Free PMC article.
Clinical utility gene card for: Nemaline myopathy - update 2015.
Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Nowak KJ, et al. Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.12. Epub 2015 Feb 25. Eur J Hum Genet. 2015. PMID: 25712079 Free PMC article. No abstract available.
150 results