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2010 | 51 | 2 | 203-209
Article title

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment

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Languages of publication
EN
Abstracts
EN
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 Ser112Arg mutation in the PMP22 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 Ser112Arg mutation in the PMP22 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 with PMP22 gene mutations
Discipline
Year
Volume
51
Issue
2
Pages
203-209
Physical description
References
Document Type
ARTICLE
Publication order reference
A. Kochanski, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, Warsaw, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-ab511a6f-fbc4-3fae-9689-516d2842d7dc
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