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1) Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010; 362: 1181-91
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2) Roa BB, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. Int J Neurol. 1991-1992; 25-26: 97-107
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3) Saporta ASD, Sottile SL, Shy ME, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011; 69: 22-33
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4) Szigeti K, Nelis E, Lupski JR, et al. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med. 2006; 8: 243-54
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5) Ohnishi A, Li LY, Fukushima Y, et al. Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy. Am J Med Genet. 1995; 59: 51-8
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6) Boerkoel CF, Takashima H, Lupski JR, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and geno-type-phenotype correlation. Ann Neurol. 2002; 51: 190-201
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7) Abe A, Numakura C, Hayasaka K, et al. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. J Hum Genet. 2011; 56; 364-8
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8) 橋口昭大, 徳永章子, 髙嶋 博, 他. シャルコー・マリー・トゥース病 200例のマイクロアレイDNAチップによる遺伝子診断. Peripheral Nerve. 2011; 22: 64-71
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9) Chow CY, Zhang Y, Dowling JJ, et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007; 448: 68-72
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10) Delague V, Jacquier A, Hamadouche T, et al. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007; 81: 1-16
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11) Hantke J, Chandler D, King R, et al. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). Eur J Hum Genet. 2009; 17: 1606-14
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12) Kim HJ, Sohn KM, Shy ME, et al. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007; 81: 552-8
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13) Leal A, Huehne K, Bauer F, et al. Identification of the variant Ala335Val of MED25 as respon-sible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correla-tion between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 2009; 10: 275-87
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14) Landoure G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet. 2010; 42: 170-4
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15) Latour P, Thauvin-Robinet C, Baudelet-Mery C, et al. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2010; 86: 77-82
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16) McLaughlin HM, Sakaguchi R, Liu C, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet. 2010; 87: 560-6
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17) Sivakumar K, Kyriakides T, Puls I, et al. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain. 2005; 128(Pt10): 2304-14
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18) Jordanova A, Irobi J, Thomas FP, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermedi-ate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006; 38: 197-202
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19) 橋口昭大, 髙嶋 博. シャルコー・マリー・トゥース病の診断: 遺伝子診断. Peripheral Nerve. 2011; 22: 2-11
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