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Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

✍ Scribed by Kathrin Huehne; Vladimir Benes; Christian Thiel; Cornelia Kraus; Wolfram Kress; Maria Hoeltzenbein; Christoph J. Ploner; Johannes Kotzian; André Reis; Hans Dieter Rott; Bernd W. Rautenstrauss

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
28 KB
Volume
21
Category
Article
ISSN
1059-7794

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✦ Synopsis

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variations of PMP22, myelin protein zero (MPZ) and the gap junction protein b 1 gene (GJB1 or Connexin 32) may cause a variety of distinct CMT phenotypes. In this study we screened DNA from 42 unrelated patients for mutations in the PMP22, MPZ and GJB1 genes. Four novel mutations were identified. A Val65Phe amino acid exchange in PMP22 causes CMT type 1 associated with deafness, in GJB1 Tyr7_Thr8delinsSer, Pro172Ala and Ser138Asn are causes of CMTX neuropathies".

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