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  • Title: X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
    Author: Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE.
    Journal: J Med Genet; 1994 Mar; 31(3):193-6. PubMed ID: 7912286.
    Abstract:
    X linked dominant Charcot-Marie-Tooth disease (CMTX1) has previously been localised to Xq13-21. Fifteen families were studied using 12 highly informative polymorphisms in the pericentric region of the X chromosome. Phase known recombinations in these families localise the X linked dominant CMT gene to the region distal to DXS106 (Xq11.2-12) and proximal to DXS559 (Xq13.1). These markers flank approximately 2 to 3 Mb of DNA to which GJB1 and CCG1 have already been mapped. A recent report of mutations in the GJB1 gene in subjects with CMTX1 makes this a strong candidate gene.
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