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

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-09, Vol.143A (18), p.2196-2199
Main Authors: Kabzińska, Dagmara, Korwin-Piotrowska, Teresa, Drechsler, Hanna, Drac, Hanna, Hausmanowa-Petrusewicz, Irena, Kochański, Andrzej
Format: Article
Language:English
Subjects:
Age of Onset
Charcot-Marie-Tooth Disease - complications
Charcot-Marie-Tooth Disease - genetics
Female
Hearing Disorders - complications
Hearing Disorders - genetics
Humans
Male
Middle Aged
Mutation
Pedigree
Proline - genetics
Threonine - genetics
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31908