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17p duplicated Charcot–Marie–Tooth 1A

✍ Scribed by W. Marques; M. R. Freitas; O. J. M. Nascimento; A. B. Oliveira; L. Calia; A. Melo; R. Lucena; V. Rocha; A. A. Barreira

Publisher
Springer
Year
2005
Tongue
English
Weight
213 KB
Volume
252
Category
Article
ISSN
0340-5354

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Charcot-Marie-Tooth disease 1A (CMT1A) a
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12
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We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve cond

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Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations
✍ A. A. W. M. Gabreëls-Festen; P. A. Bolhuis; J. E. Hoogendijk; L. J. Valentijn; E 📂 Article 📅 1995 🏛 Springer-Verlag 🌐 English ⚖ 949 KB

Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large as 1.5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protei

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The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2
✍ Jessica E. Hoogendijk; Gerard W. Hensels; Ina Zorn; Linda Valentijn; Emiel A. M. 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 723 KB

Recently, it has been shown that Charcot-Marie-Tooth disease type 1a (CMT1a) is linked with a duplication of a DNA segment that is detected by probe VAW409R3, and that is located on chromosome 17p11.2. Here, we show that this duplication also contains VAW412R3a, but not A10-41 and EW503. Accounting

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Clinical and pathological correlations in charcot–marie–tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases
✍ Gian Maria Fabrizi; Alessandro Simonati; Michela Morbin; Tiziana Cavallaro; Fede 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 566 KB

In a cross-sectional, clinical, and morphometric analysis we assessed the correlation between the clinical and pathological evolution of disease in 20 unrelated patients of various ages affected by Charcot-Marie-Tooth neuropathy type 1A (CMT1A) with the 17p11.2p12 (peripheral myelin protein 22, PMP2