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Page 1
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. 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.
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Lamont PJ, et al. Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24664454 Free PMC article.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft SJ, Yau KS, Allcock RJN, Mina K, Gooding R, Faiz F, Atkinson VJ, Wise C, Sivadorai P, Trajanoski D, Kresoje N, Ong R, Duff RM, Cabrera-Serrano M, Nowak KJ, Pachter N, Ravenscroft G, Lamont PJ, Davis MR, Laing NG. Beecroft SJ, et al. Among authors: lamont pj. Ann Clin Transl Neurol. 2020 Mar;7(3):353-362. doi: 10.1002/acn3.51002. Epub 2020 Mar 9. Ann Clin Transl Neurol. 2020. PMID: 32153140 Free PMC article.
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: lamont pj. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rius R, Compton AG, Baker NL, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion MJ, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva MG, Delatycki MB, Edwards S, Ellaway C, Fahey MC, Finlay K, Fletcher J, Frajman LE, Frazier AE, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock DH, Howting D, Jackson MR, Kava MP, Kemp M, King-Smith S, Lake NJ, Lamont PJ, Lee J, Long JC, MacShane M, Madelli EO, Martin EM, Marum JE, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips LK, Quinn MCJ, Ryan MT, Schenscher S, Simons C, Smith N, Stroud DA, Tchan MC, Tom M, Wallis M, Ware TL, Welch AE, Wools C, Wu Y, Christodoulou J, Thorburn DR. Rius R, et al. Among authors: lamont pj. Genet Med. 2024 Sep 19:101271. doi: 10.1016/j.gim.2024.101271. Online ahead of print. Genet Med. 2024. PMID: 39305161
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. 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.
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Swalwell H, et al. Among authors: lamont pj. Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364701 Free PMC article.
Clinical utility gene card for: nemaline myopathy.
Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Nowak KJ, et al. Among authors: lamont pj. Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.70. Epub 2012 Apr 18. Eur J Hum Genet. 2012. PMID: 22510848 Free PMC article. No abstract available.
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G. Beecroft SJ, et al. Among authors: lamont pj. Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5. Neuromuscul Disord. 2017. PMID: 28554554
75 results