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New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A duplication

✍ Scribed by José Berciano; Elena Gallardo; Antonio García; Ana L. Pelayo-Negro; Jon Infante; Onofre Combarros

Publisher
Springer
Year
2011
Tongue
English
Weight
569 KB
Volume
258
Category
Article
ISSN
0340-5354

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Charcot-Marie-Tooth disease type 1A: mor
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

The duplication in Charcot-Marie-Tooth d
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