High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A
- 1 August 2013
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA Neurology
- Vol. 70 (8), 981-987
- https://doi.org/10.1001/jamaneurol.2013.3178
Abstract
Charcot-Marie-Tooth (CMT) disorders are inherited peripheral neuropathies and are among the most common genetic neurological disorders, with a prevalence of 1 in 2400 individuals.1 Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a 1.4-megabase duplication on chromosome 17p11.22,3 and constitutes approximately 50% of all cases of CMT.4,5 The peripheral myelin protein 22 gene (PMP22; GenBank AC005703) is contained within the duplication, and the increased level of PMP22 causes the neuropathy.6This publication has 31 references indexed in Scilit:
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