Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A
✍ Scribed by Valentijn, Linda J.; Baas, Frank; Wolterman, Ruud A.; Hoogendijk, Jessica E.; van den Bosch, Norbert H.A.; Zorn, Ina; Gabreëls-Festen, Anneke A.W.M.; de Visser, Marianne; Bolhuis, Pieter A.
- Book ID
- 109918812
- Publisher
- Nature Publishing Group
- Year
- 1992
- Tongue
- English
- Weight
- 423 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1061-4036
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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
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 variatio
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