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Charcot-Marie-Tooth disease: a clinico-genetic confrontation.
Ann Hum Genet. 2008 May; 72(Pt 3):416-41.AH

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, Zagreb University Medical School, Zagreb, Croatia. nina.barisic@zg.htnet.hrNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

18215208

Citation

Barisic, N, et al. "Charcot-Marie-Tooth Disease: a Clinico-genetic Confrontation." Annals of Human Genetics, vol. 72, no. Pt 3, 2008, pp. 416-41.
Barisic N, Claeys KG, Sirotković-Skerlev M, et al. Charcot-Marie-Tooth disease: a clinico-genetic confrontation. Ann Hum Genet. 2008;72(Pt 3):416-41.
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, 72(Pt 3), 416-41. https://doi.org/10.1111/j.1469-1809.2007.00412.x
Barisic N, et al. Charcot-Marie-Tooth Disease: a Clinico-genetic Confrontation. Ann Hum Genet. 2008;72(Pt 3):416-41. PubMed PMID: 18215208.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth disease: a clinico-genetic confrontation. AU - Barisic,N, AU - Claeys,K G, AU - Sirotković-Skerlev,M, AU - Löfgren,A, AU - Nelis,E, AU - De Jonghe,P, AU - Timmerman,V, Y1 - 2008/01/23/ PY - 2008/1/25/pubmed PY - 2008/6/21/medline PY - 2008/1/25/entrez SP - 416 EP - 41 JF - Annals of human genetics JO - Ann Hum Genet VL - 72 IS - Pt 3 N2 - 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. SN - 0003-4800 UR - https://www.unboundmedicine.com/medline/citation/18215208/Charcot_Marie_Tooth_disease:_a_clinico_genetic_confrontation_ L2 - https://doi.org/10.1111/j.1469-1809.2007.00412.x DB - PRIME DP - Unbound Medicine ER -