| 1 | FCMD, FKTN
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| Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
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| Ismail S, Schaffer AE, Rosti RO, Gleeson JG, Zaki MS.
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| Gene 539(2):279-82. doi: 10.1016/j.gene.2014.01.070. Epub 2014 Feb 13.
2014
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| 2 | FCMD, FKTN
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| Peripheral nerve involvement in fukuyama congenital muscular dystrophy: a case report.
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| Jang DH, Sung IY, Ko TS.
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| J Child Neurol 28(1):132-7. doi: 10.1177/0883073812437425. Epub 2012 Feb 28.
2013
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| 3 | FCMD, FKTN
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| Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
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| Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.
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| Neuromuscul Disord 21(1):20-30. Epub 2010 Oct 18.
2011
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| 4 | FCMD, FKTN
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| Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
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| Lim BC, Ki CS, Kim JW, Cho A, Kim MJ, Hwang H, Kim KJ, Hwang YS, Park WY, Lim YJ, Kim IO, Lee JS, Chae JH.
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| Neuromuscul Disord 20(8):524-30.PMID: 20620061 2010
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| 5 | FCMD, FKTN
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| Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.
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| Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X.
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| Am J Med Genet A 149A(11):2403-8.PMID: 19842201 2009
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| 6 | FKTN, FCMD
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| Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
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| Cotarelo RP, Valero MC, Prados B, Pe–a A, Rodr’guez L, Fano O, Marco JJ, Mart’nez-Fr’as ML, Cruces J.
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| Clin Genet 73(2):139-45. Epub 2007 Dec 19. 2008
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| 7 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 8 | FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
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| Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.
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| Ann Neurol 64(5):573-82. 2008
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| 9 | FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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| Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA.
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| Hum Mutat 29(11):E231-41. 2008
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| 10 | FCMD, FKTN
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| Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophy.
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| Yamamoto T, Kato Y, Kawaguchi-Niida M, Shibata N, Osawa M, Saito K, Kröger S, Kobayashi M.
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| Acta Myol 27:9-13. Review.PMID: 19108571 2008
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| 11 | FCMD, FKRP, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Muscular dystrophies due to defective glycosylation of dystroglycan.
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| Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC.
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| Acta Myol 26(3):129-35. Review. 2007
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| 12 | MDC1A, LMNA, FKTN, FCMD
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| Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
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| Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T.
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| Biochem Biophys Res Commun 342(2):489-502. Epub 2006 Feb 3. 2006
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| 13 | WLKWS1, POMT1, FKTN, FCMD
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| Glyc-O-genetics of Walker-Warburg syndrome.
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| van Reeuwijk J, Brunner HG, van Bokhoven H.
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| Clin Genet 67(4):281-9. 2005
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| 14 | FKTN, FCMD
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| Identification of a functional CRE in the promoter of Fukuyama congenital muscular dystrophy gene fukutin.
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| Fang H, Sodja C, Chartier J, Desbois A, Lei J, Walker PR, Sikorska M.
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| Brain Res Mol Brain Res 136(1-2):1-11. 2005
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| 15 | FCMD, FKTN
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| Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.
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| Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, Misaki K, Fukui T, Kobayashi K, Tachikawa M, Imamura M, Nakamura Y, Shimizu T, Murakami T, Sunada Y, Fujikado T, Matsumura K, Terashima T, Toda T.
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| Hum Mol Genet 12(12):1449-59. 2003
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| 16 | FCMD, WLKWS1, FKTN
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| A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
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| de Bernabe DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG.
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| J Med Genet 40(11):845-8. No abstract available. 2003
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| 17 | FCMD, FKTN
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| Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle.
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| Sunada Y, Saito F, Higuchi I, Matsumura K, Shimizu T.
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| Neuromuscul Disord 12(2):117-20. 2002
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| 18 | FCMD, FKTN
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| Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy.
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| Yamamoto T, Kato Y, Karita M, Takeiri H, Muramatsu F, Kobayashi M, Saito K, Osawa M.
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| Acta Neuropathol (Berl) 104(3):217-24. Epub 2002 Jun 21. 2002
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| 19 | FCMD, FKTN
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| Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.
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| Kobayashi K, Sasaki J, Kondo-Iida E, Fukuda Y, Kinoshita M, Sunada Y, Nakamura Y, Toda T.
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| FEBS Lett 489(2-3):192-6. 2001
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| 20 | WLKWS1, MEB, FCMD, FKTN
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| Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
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| Cormand B, Pihko H, Bayes M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE.
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| Neurology 56(8):1059-69. 2001
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| 21 | FCMD, FKTN
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| Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
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| Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K.
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| Neurology 57(1):115-21. 2001
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| 22 | FCMD, FKTN
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| Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.
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| Saito K, Osawa M, Wang ZP, Ikeya K, Fukuyama Y, Kondo-Iida E, Toda T, Ohashi H, Kurosawa K, Wakai S, Kaneko K.
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| Am J Med Genet 92(3):184-90. 2000
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| 23 | FCMD, FKTN
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| Fukutin protein is expressed in neurons of the normal developing human brain but is reduced in Fukuyama-type congenital muscular dystrophy brain.
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| Saito Y, Mizuguchi M, Oka A, Takashima S.
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| Ann Neurol 47(6):756-64. 2000
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| 24 | FCMD, FKTN
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| Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).
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| Kondo-Iida E, et al.
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| Hum Mol Genet 8(12):2303-2309 1999
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| 25 | FCMD, FKTN
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| Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration.
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| Toda T, Kobayashi K.
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| J Mol Med 77(12):816-23. Review. 1999
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| 26 | FCMD, FKTN
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| An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
|
| Kobayashi K, et al.
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| Nature 394 : 388-392. 1998
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| 27 | FCMD, FKTN
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| Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD).
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| Kobayashi K, et al.
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| Hum Genet 103 : 323-327. 1998
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| 28 | FCMD, FKTN
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| Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy.
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| Kondo-Iida E, et al.
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| Hum Genet 99 : 427-432. 1997
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| 29 | FCMD, FKTN, MUSK, D9S2105, D9S2107, D9S2109
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| Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.
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| Toda T, et al.
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| Am J Hum Genet 59 : 1313-1320. 1996
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| 30 | FCMD, WLKWS1, FKTN
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| Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.
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| Toda T, et al.
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| Ann Neurol 37 : 99-101. 1995
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| 31 | FCMD, FKTN
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| Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.
|
| Ranta S, et al.
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| Neuromuscul Disord 5 : 221-225. 1995
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| 32 | FCMD, LAMA2, WLKWS1, FKTN
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| Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.
|
| Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsold R, Helliwell TR, Appleton R, et al.
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| Neuropediatrics 26(3):148-55. 1995
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| 33 | FCMD, FKTN
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| Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.
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| Yoshioka M, et al.
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| Am J Med Genet 53 : 245-250. 1994
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| 34 | FCMD, FKTN
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| Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy : evidence for strong linkage disequilibrium.
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| Toda T, et al.
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| Am J Hum Genet 55 : 946-950. 1994
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| 35 | FCMD, FKTN
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| Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy.
|
| Matsumura K, et al.
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| Lancet 341 : 521-522. 1993
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| 36 | FCMD, FKTN
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| Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.
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| Toda T, et al.
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| Nat Genet 5 : 283-286. 1993
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| 37 | FCMD, FKTN
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| Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
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| Beggs AH, et al.
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| Proc Natl Acad Sci U S A 89 : 623-627. 1992
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| 38 | FCMD
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| Muscle-eye-brain disease (MEB).
|
| Santavuori P, et al.
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| Brain Dev 11 : 147-153. 1989
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