Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in thePMP22gene
✍ Scribed by Benjamin B. Roa; Carlos A. Garcia; Uelli Suter; Deanna A. Kulpa; Carol A. Wise; Jane Müller; Andrew A. Welcher; G. Jackson Snipes; Eric M. Shooter; Pragna I. Patel; James R. Lupski
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 93 KB
- Volume
- 8
- Category
- Article
- ISSN
- 0931-041X
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Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral
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