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Zhou, V. ANO5 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4699 (accessed on 29 September 2026).
Zhou V. ANO5 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4699. Accessed September 29, 2026.
Zhou, Vicky. "ANO5 Gene" Encyclopedia, https://encyclopedia.pub/entry/4699 (accessed September 29, 2026).
Zhou, V. (2020, December 24). ANO5 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4699
Zhou, Vicky. "ANO5 Gene." Encyclopedia. Web. 24 December, 2020.
ANO5 Gene
Edit

anoctamin 5

genes

References

  1. Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M,Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH,Mahjneh I, de Visser M, Bashir R, Brais B. Recessive mutations in the putativecalcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distalMMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. doi:10.1016/j.ajhg.2009.12.013.
  2. Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B.Miyoshi-like distal myopathy with mutations in anoctamin 5 gene. Rev Neurol(Paris). 2012 Feb;168(2):135-41. doi: 10.1016/j.neurol.2011.10.005.
  3. Hartzell HC, Yu K, Xiao Q, Chien LT, Qu Z. Anoctamin/TMEM16 family members areCa2+-activated Cl- channels. J Physiol. 2009 May 15;587(Pt 10):2127-39. doi:10.1113/jphysiol.2008.163709.
  4. Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF,Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ,Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. Afounder mutation in Anoctamin 5 is a major cause of limb-girdle musculardystrophy. Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294.
  5. Liewluck T, Winder TL, Dimberg EL, Crum BA, Heppelmann CJ, Wang Y, Bergen HR3rd, Milone M. ANO5-muscular dystrophy: clinical, pathological and molecularfindings. Eur J Neurol. 2013 Oct;20(10):1383-9. doi: 10.1111/ene.12191.
  6. Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R. A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord. 2010Dec;20(12):791-5. doi: 10.1016/j.nmd.2010.07.270.
  7. Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B. Eight new mutations and theexpanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682.Erratum in: Neurology. 2013 Jan 8;80(2):226.
  8. Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, DeschauerM, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P,Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B,Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, LongmanC, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C,Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP,Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J,Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, TurnerC, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. ANO5 geneanalysis in a large cohort of patients with anoctaminopathy: confirmation of maleprevalence and high occurrence of the common exon 5 gene mutation. Hum Mutat.2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342.
  9. Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, Omura K,Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M. The novel gene encoding a putative transmembrane protein is mutated ingnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004 Jun;74(6):1255-61.
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