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Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene

✍ Scribed by Dagmara Kabzińska; Teresa Korwin-Piotrowska; Hanna Drechsler; Hanna Drac; Irena Hausmanowa-Petrusewicz; Andrzej Kochański


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
189 KB
Volume
143A
Category
Article
ISSN
1552-4825

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Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a