Fukutin: The FKTN gene (formerly known as FCMD) provides instructions for making a protein called fukutin.
genes
References
Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ,Martínez-Frías ML, Cruces J. Two new patients bearing mutations in the fukutingene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet.2008 Feb;73(2):139-45. doi: 10.1111/j.1399-0004.2007.00936.x.
de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, DobynsWB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygousnonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.J Med Genet. 2003 Nov;40(11):845-8.
Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J,Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A,Van Schaftingen E, Bommer GT. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.
Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C,Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, MuntoniF. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.Ann Neurol. 2006 Nov;60(5):603-10.
Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K.Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital musculardystrophy. Neurology. 2001 Jul 10;57(1):115-21.
Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-ManyaK, Furukawa JI, Mizuno M, Kawakami H, Shinohara Y, Wada Y, Endo T, Toda T.Identification of a Post-translational Modification with Ribitol-Phosphate andIts Defect in Muscular Dystrophy. Cell Rep. 2016 Mar 8;14(9):2209-2223. doi:10.1016/j.celrep.2016.02.017.
Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T. Novel mutations and genotype-phenotype relationshipsin 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet. 1999 Nov;8(12):2303-9.
Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M,Takada F, Eriguchi M, Kotooka N, Campbell KP, Osawa M, Nishino I. Fukutin genemutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006 Nov;60(5):597-602.
Saito Y, Yamamoto T, Mizuguchi M, Kobayashi M, Saito K, Ohno K, Osawa M.Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenitalmuscular dystrophy brains. Brain Res. 2006 Feb 23;1075(1):223-8.
Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M,Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T,Matsumura K. Fukuyama-type congenital muscular dystrophy (FCMD) andalpha-dystroglycanopathy. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. Review.
Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, KurulSH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U,Morris-Rosendahl DJ. Fukutin mutations in non-Japanese patients with congenitalmuscular dystrophy: less severe mutations predominate in patients with anon-Walker-Warburg phenotype. Neuromuscul Disord. 2011 Jan;21(1):20-30. doi:10.1016/j.nmd.2010.08.007.
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