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Charcot-Marie-Tooth: From Molecules to Therapy

1
Department of Neurology, The Ohio State University, Columbus, OH 43210, USA
2
Department of Neurology, Division of Neuromuscular Disorders, The Ohio State University, Wexner Medical Center, Columbus, OH 43210, USA
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(14), 3419; https://doi.org/10.3390/ijms20143419
Received: 31 May 2019 / Revised: 3 July 2019 / Accepted: 3 July 2019 / Published: 12 July 2019
(This article belongs to the Special Issue Research on Charcot-Marie-Tooth Disease, from Molecules to Therapy)
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PDF [253 KB, uploaded 12 July 2019]

Abstract

Charcot-Marie-Tooth (CMT) is the most prevalent category of inherited neuropathy. The most common inheritance pattern is autosomal dominant, though there also are X-linked and autosomal recessive subtypes. In addition to a variety of inheritance patterns, there are a myriad of genes associated with CMT, reflecting the heterogeneity of this disorder. Next generation sequencing (NGS) has expanded and simplified the diagnostic yield of genes/molecules underlying and/or associated with CMT, which is of paramount importance in providing a substrate for current and future targeted disease-modifying treatment options. Considerable research attention for disease-modifying therapy has been geared towards the most commonly encountered genetic mutations (PMP22, GJB1, MPZ, and MFN2). In this review, we highlight the clinical background, molecular understanding, and therapeutic investigations of these CMT subtypes, while also discussing therapeutic research pertinent to the remaining less common CMT subtypes. View Full-Text
Keywords: Charcot-Marie-Tooth; hereditary neuropathy; molecular therapy; gene therapy Charcot-Marie-Tooth; hereditary neuropathy; molecular therapy; gene therapy
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Morena, J.; Gupta, A.; Hoyle, J.C. Charcot-Marie-Tooth: From Molecules to Therapy. Int. J. Mol. Sci. 2019, 20, 3419.

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