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Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation
Open accessAbstract
Summary: Charcot‐Marie‐Tooth disease (CMT) is the most common neuromuscular disorder. It represents a group of clinically and genetically heterogeneous inherited neuropathies. Here, we review the results of molecular genetic investigations and the clinical and neurophysiological features of the different CMT subtypes. The products of genes associated with CMT phenotypes are important for the neuronal structure maintenance, axonal transport, nerve signal transduction and functions related to the cellular integrity. Identifying the molecular basis of CMT and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, and the processes involved in the normal development and function of the peripheral nervous system. The results of molecular genetic investigations have impact on the appropriate diagnosis, genetic counselling and possible new therapeutic options for CMT patients.
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Cited by
Role of Rab GTPases in Membrane Traffic and Cell Physiology
Hutagalung, A. H., & Novick, P. J. (2011) · Physiological Reviews · doi:10.1152/physrev.00059.2009 · Cited by 1,460
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
Pareyson, D., & Marchesi, C. (2009) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70110-3 · Cited by 621
d'Ydewalle, C., Krishnan, J., Chiheb, D. M., Van Damme, P., Irobi, J., Kozikowski, A. P., Berghe, P. V., Timmerman, V., Robberecht, W., & Van Den Bosch, L. (2011) · Nature Medicine · doi:10.1038/nm.2396 · Cited by 454
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Metadata
- Authors
- Barisic, N., Claeys, K. G., Sirotković‐Skerlev, M., Löfgren, A., Nelis, E., De Jonghe, P., & Timmerman, V.
- Venue
- Annals of Human Genetics
- Publisher
- Wiley
- Published
- 2008-01-23
- Volume
- 72
- Issue
- 3
- Pages
- 416-441
- ISSN
- 0003-4800 (ISSN-L)
- 1469-1809
- OpenAlex
- W1503103177
- Cited by
- 162
- References
- 0
- FWCI
- 6.86
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Barisic, N., Claeys, K. G., Sirotković‐Skerlev, M., Löfgren, A., Nelis, E., De Jonghe, P., & Timmerman, V. (2008). Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation. Annals of Human Genetics. https://doi.org/10.1111/j.1469-1809.2007.00412.x
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