✦ LIBER ✦

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

✍ Scribed by Valentijn, L. J.; Bolhuis, P. A.; Zorn, I.; Hoogendijk, J. E.; van den Bosch, N.; Hensels, G. W.; Stanton, V. P.; Housman, D. E.; Fischbeck, K. H.; Ross, D. A.

Book ID: 109916175
Publisher: Nature Publishing Group
Year: 1992
Tongue: English
Weight: 657 KB
Volume: 1
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0692-166

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The peripheral myelin protein gene PMP–2

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

✍ Timmerman, V.; Nelis, E.; Van Hul, W.; Nieuwenhuijsen, B.W.; Chen, K.L.; Wang, S 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 670 KB

Erratum: The peripheral myelin protein g

Erratum: The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 239 KB

The gene for the peripheral myelin prote

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

✍ Patel, Pragna I.; Roa, Benjamin B.; Welcher, Andrew A.; Schoener-Scott, Raymond; 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 834 KB

Peripheral myelin protein-22 expression

Peripheral myelin protein-22 expression in charcot-marie-tooth disease type 1a sural nerve biopsies

✍ Dr. C. O. Hanemann; G. Stoll; D. D'Urso; W. Fricke; J. J. Martin; C. Van Broeckh 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 695 KB

Peripheral myelin protein-22 (PMP22) is expressed in myelinating Schwann cells and shows significant homology to murine growth arrest-specific gene gas3. Charcot-Marie-Tooth disease type l a (CMTla) is a common hereditary demyelinating neuropathy. Recently it was demonstrated that the gene for PMP22

Charcot-Marie-Tooth disease: Histopathol

Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and Connexin32 mutations (CMTX1)

✍ Stefanie Sander; Garth A. Nicholson; Robert A. Ouvrier; James G. McLeod; John D. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 693 KB

The two most common subtypes of Charcot-Marie-Tooth (CMT) disease are CMT1A and CMTX1. To determine whether these different genetic entities display different morphological phenotypes we compared sural nerve biopsies of CMT1A patients due to PMP22 duplication with biopsies of CMTX1 patients with pro

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