X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
نویسندگان
چکیده
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.
منابع مشابه
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is the second most common hereditary motor sensory neuropathy (HMSN) representing an estimated 10%–15% of occurrences. CMTX1 arises from mutations in the gap-junction beta-1 gene (GJB1) on chromosome Xq13.1, which encodes the gap-junction protein connexin-32. Rather unique to CMTX1, among other forms of HMSN, is CNS involvement in a minority o...
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X-linked Charcot-Marie-Tooth disease (CMTX1) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX1 disease, as in other forms of Charcot-Marie-Tooth (CMT) disease, are distal muscle wasting and weakness, hyporeflexia, distal sensory disturbance, and foot deformities. Mutations in the connexin-32 gene (gap juncti...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 31 3 شماره
صفحات -
تاریخ انتشار 1994