Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22 gene, coexisting with a slowly progressive hearing impairment |
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Authors: | D Kabzińska E Sinkiewicz-Darol I Hausmanowa-Petrusewicz A Kochański |
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Institution: | (1) Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland;(2) Institute of Cell Biology, ETH Zurich, Zurich, Switzerland;(3) Department of Neurology, Medical University of Warsaw, Warsaw, Poland;; |
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Abstract: | Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a
mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser1 12Arg mutation in thePMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade
of life. We suggest that the Ser1 12Arg mutation in thePMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of
CMT phenotypes putatively associated withPMP22 gene mutations. |
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