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Patients homozygous for the 17p 11.2 duplication in charcot-marie-tooth type 1A Disease

✍ Scribed by Dr E. LeGuern; R. Gouider; D. Mabin; S. Tardieu Bs; N. Birouk; P. Parent; P. Bouche; A. Brice

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
540 KB
Volume
41
Category
Article
ISSN
0364-5134

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πŸ“œ SIMILAR VOLUMES

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. GabreΓ«ls-Festen; P. A. Bolhuis; J. E. Hoogendijk; L. J. Valentijn; E πŸ“‚ Article πŸ“… 1995 πŸ› Springer-Verlag 🌐 English βš– 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. πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 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

Charcot-Marie-Tooth disease 1A (CMT1A) a
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2β†’12
✍ M. Upadhyaya; S. H. Roberts; J. Farnham; J. C. MacMillan; A. Clarke; J. P. Heath πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 340 KB

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