A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

By Tang Bei-sha   Luo Wei   Xia Kun   Xiao Jian-feng   Jiang Hong   Shen Lu   Tang Jian-guang   Zhao Guo-hua   Cai Fang   Pan Qian   Dai He-ping   Yang Qi-dong   Xia Jia-hui   Evgrafov Oleg  

Human Genetics, Vol. 114, Iss. 6, 2004-05 ,pp. : 527-533

Springer Publishing Company

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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease

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Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 415-421

Oxford University Press

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

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Human Molecular Genetics, Vol. 12, Iss. 3, 2003-02 ,pp. : 349-356

Oxford University Press

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Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

By Senderek Jan   Bergmann Carsten   Weber Susanne   Ketelsen Uwe-Peter   Schorle Hubert   Rudnik-Schöneborn Sabine   Büttner Reinhard   Buchheim Eckhard   Zerres Klaus  

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Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33

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