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Hereditary motor and sensory disorders of the peripheral nerve form one of the most common groups of human genetic diseases collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis in a three generation kindred, we have mapped a new locus for X-linked dominant CMT to chromosome Xp22.11. A microsatellite scan of the X chromosome(More)
INTRODUCTION Charcot-Marie-Tooth (CMT) disease is a group of peripheral neuropathies affecting both motor and sensory nerves. CMTX3 is an X-linked CMT locus, which maps to chromosome Xq26.3-q27.3. Initially, CMTX3 was mapped to a 31.2-Mb region in 2 American families. We have reexamined 1 of the original families (US-PED2) by next generation sequencing. (More)
Though much has been studied and written about food allergy, the majority of the available literature focuses on food allergies in the pediatric population. Unfortunately, it is likely that in regard to food allergies, adults are not just big children, and extrapolating findings from pediatric to adult patient populations might lead to erroneous(More)
With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locus at chromosome Xq26.3-q27.3, all coding mutations were excluded. Using whole genome sequencing we found a(More)
BACKGROUND Positive cerebrospinal fluid (CSF) cytology typically indicates leptomeningeal dissemination of metastatic, secondary, or rarely, primary central nervous system (CNS) tumors. To the authors' knowledge, large-scale studies on clinicocytologic features of various primary CNS tumors in CSF are lacking. METHODS The authors performed a retrospective(More)
Dear Sirs, Charcot-Marie-Tooth (CMT) disease encompasses a clinically and genetically heterogeneous group of inherited peripheral neuropathies affecting bothmotor and sensory neurons. AnXlinked form of CMT (CMTX) accounts for up to 15% of all CMT cases [1, 2]. OMIM reports five X-linked loci associated with CMT disease: CMTX1 (OMIM 302800), CMTX2 (OMIM(More)
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