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Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance.
Clin Neuropathol. 2008 Jan-Feb; 27(1):1-12.CN

Abstract

In recent years, 13 loci and 10 genes have been identified in Charcot-Marie-Tooth disorders with a recessive mode of inheritance (AR-CMT). Accordingly, the entity of AR-CMT has been divided into subgroups on the basis of genetic linkage. Mutations in the MTMR2, MTMR13, GDAP1, PRX, CTDPI, KIAA1985 and NDRG1 genes have been shown to be associated with specific CMT phenotypes. In AR-CMT disorders associated with mutations in the LMNA and MED25 genes the number of patients is still too low to achieve reliable phenotype-genotype correlations. In the present review, we summarize molecular, electrophysiological, neuropathological and clinical aspects of AR-CMT disorders.

Authors+Show Affiliations

Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Pawinskiego 5, Warszawa, Poland.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

18257469

Citation

Kabzinska, D, et al. "Charcot-Marie-Tooth Disorders With an Autosomal Recessive Mode of Inheritance." Clinical Neuropathology, vol. 27, no. 1, 2008, pp. 1-12.
Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clin Neuropathol. 2008;27(1):1-12.
Kabzinska, D., Hausmanowa-Petrusewicz, I., & Kochanski, A. (2008). Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clinical Neuropathology, 27(1), 1-12.
Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Charcot-Marie-Tooth Disorders With an Autosomal Recessive Mode of Inheritance. Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. PubMed PMID: 18257469.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. AU - Kabzinska,D, AU - Hausmanowa-Petrusewicz,I, AU - Kochanski,A, PY - 2008/2/9/pubmed PY - 2008/3/5/medline PY - 2008/2/9/entrez SP - 1 EP - 12 JF - Clinical neuropathology JO - Clin Neuropathol VL - 27 IS - 1 N2 - In recent years, 13 loci and 10 genes have been identified in Charcot-Marie-Tooth disorders with a recessive mode of inheritance (AR-CMT). Accordingly, the entity of AR-CMT has been divided into subgroups on the basis of genetic linkage. Mutations in the MTMR2, MTMR13, GDAP1, PRX, CTDPI, KIAA1985 and NDRG1 genes have been shown to be associated with specific CMT phenotypes. In AR-CMT disorders associated with mutations in the LMNA and MED25 genes the number of patients is still too low to achieve reliable phenotype-genotype correlations. In the present review, we summarize molecular, electrophysiological, neuropathological and clinical aspects of AR-CMT disorders. SN - 0722-5091 UR - https://www.unboundmedicine.com/medline/citation/18257469/Charcot_Marie_Tooth_disorders_with_an_autosomal_recessive_mode_of_inheritance_ L2 - https://medlineplus.gov/charcotmarietoothdisease.html DB - PRIME DP - Unbound Medicine ER -