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Page 1
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Sambuughin N, et al. Among authors: mastaglia fl. Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109227 Free PMC article.
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Meredith C, et al. Among authors: mastaglia fl. Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322983 Free PMC article.
Inherited skeletal muscle disorders.
Laing NG, Mastaglia FL. Laing NG, et al. Among authors: mastaglia fl. Ann Hum Biol. 1999 Nov-Dec;26(6):507-25. doi: 10.1080/030144699282435. Ann Hum Biol. 1999. PMID: 10612262 Review.
Autosomal dominant distal myopathy: linkage to chromosome 14.
Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, Dorosz S, Kozman H, Mastaglia FL, Kakulas BA. Laing NG, et al. Among authors: mastaglia fl. Am J Hum Genet. 1995 Feb;56(2):422-7. Am J Hum Genet. 1995. PMID: 7847377 Free PMC article.
Distal myopathies.
Mastaglia FL, Lamont PJ, Laing NG. Mastaglia FL, et al. Curr Opin Neurol. 2005 Oct;18(5):504-10. doi: 10.1097/01.wco.0000175936.23945.b6. Curr Opin Neurol. 2005. PMID: 16155432 Review.
Investigation of muscle disease.
Mastaglia FL, Laing NG. Mastaglia FL, et al. J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):256-74. doi: 10.1136/jnnp.60.3.256. J Neurol Neurosurg Psychiatry. 1996. PMID: 8609501 Free PMC article. Review. No abstract available.
451 results