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Autosomal recessive Charcot-Marie-Tooth neuropathy.
Adv Exp Med Biol. 2012; 724:61-75.AE

Abstract

Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes.

Authors+Show Affiliations

Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain. cespinos@ibv.csic.esNo 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

22411234

Citation

Espinós, Carmen, et al. "Autosomal Recessive Charcot-Marie-Tooth Neuropathy." Advances in Experimental Medicine and Biology, vol. 724, 2012, pp. 61-75.
Espinós C, Calpena E, Martínez-Rubio D, et al. Autosomal recessive Charcot-Marie-Tooth neuropathy. Adv Exp Med Biol. 2012;724:61-75.
Espinós, C., Calpena, E., Martínez-Rubio, D., & Lupo, V. (2012). Autosomal recessive Charcot-Marie-Tooth neuropathy. Advances in Experimental Medicine and Biology, 724, 61-75. https://doi.org/10.1007/978-1-4614-0653-2_5
Espinós C, et al. Autosomal Recessive Charcot-Marie-Tooth Neuropathy. Adv Exp Med Biol. 2012;724:61-75. PubMed PMID: 22411234.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive Charcot-Marie-Tooth neuropathy. AU - Espinós,Carmen, AU - Calpena,Eduardo, AU - Martínez-Rubio,Dolores, AU - Lupo,Vincenzo, PY - 2012/3/14/entrez PY - 2012/3/14/pubmed PY - 2012/4/11/medline SP - 61 EP - 75 JF - Advances in experimental medicine and biology JO - Adv Exp Med Biol VL - 724 N2 - Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes. SN - 0065-2598 UR - https://www.unboundmedicine.com/medline/citation/22411234/Autosomal_recessive_Charcot_Marie_Tooth_neuropathy_ L2 - https://dx.doi.org/10.1007/978-1-4614-0653-2_5 DB - PRIME DP - Unbound Medicine ER -