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Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family.
Int J Neurosci. 2009; 119(8):1179-89.IJ

Abstract

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral motor and sensory neuropathies characterized by distal muscle weakness atrophy predominantly in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss and skeletal deformities. Mode of inheritance could be either autosomal dominant, autosomal recessive, or X-linked. The autosomal-recessive subgroup of CMT (AR-CMT) neuropathies is heterogeneous as well. To date, nine demyelinating loci have been implicated in CMT4 and seven genes have been identified. It has been screened in this study for the presence of mutations in the coding region of GDAP1 and genetic linkage analyses of CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F loci were tested in a Turkish family presenting recessively inherited form of CMT disease characterized by severe motor weakness. We did not find any mutations in GDAP1 and genetic linkage excluded for the six demyelinating genes loci (CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F). Our findings indicate that another locus may be associated with AR-CMT disease.

Authors+Show Affiliations

Department of Medical Biology, Suleyman Demirel University, Faculty of Medicine, Isparta, Turkey. nilufersahin@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19922348

Citation

Sahin-Calapoglu, Nilufer, et al. "Genetic Study of Demyelinating Form of Autosomal-recessive Charcot-Marie-tooth Diseases in a Turkish Family." The International Journal of Neuroscience, vol. 119, no. 8, 2009, pp. 1179-89.
Sahin-Calapoglu N, Soyoz M, Calapoglu M, et al. Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. Int J Neurosci. 2009;119(8):1179-89.
Sahin-Calapoglu, N., Soyoz, M., Calapoglu, M., & Ozcelik, N. (2009). Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. The International Journal of Neuroscience, 119(8), 1179-89.
Sahin-Calapoglu N, et al. Genetic Study of Demyelinating Form of Autosomal-recessive Charcot-Marie-tooth Diseases in a Turkish Family. Int J Neurosci. 2009;119(8):1179-89. PubMed PMID: 19922348.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. AU - Sahin-Calapoglu,Nilufer, AU - Soyoz,Mustafa, AU - Calapoglu,Mustafa, AU - Ozcelik,Nurten, PY - 2009/11/20/entrez PY - 2009/11/20/pubmed PY - 2010/1/27/medline SP - 1179 EP - 89 JF - The International journal of neuroscience JO - Int J Neurosci VL - 119 IS - 8 N2 - Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral motor and sensory neuropathies characterized by distal muscle weakness atrophy predominantly in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss and skeletal deformities. Mode of inheritance could be either autosomal dominant, autosomal recessive, or X-linked. The autosomal-recessive subgroup of CMT (AR-CMT) neuropathies is heterogeneous as well. To date, nine demyelinating loci have been implicated in CMT4 and seven genes have been identified. It has been screened in this study for the presence of mutations in the coding region of GDAP1 and genetic linkage analyses of CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F loci were tested in a Turkish family presenting recessively inherited form of CMT disease characterized by severe motor weakness. We did not find any mutations in GDAP1 and genetic linkage excluded for the six demyelinating genes loci (CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F). Our findings indicate that another locus may be associated with AR-CMT disease. SN - 1563-5279 UR - https://www.unboundmedicine.com/medline/citation/19922348/Genetic_study_of_demyelinating_form_of_autosomal_recessive_Charcot_Marie_tooth_diseases_in_a_Turkish_family_ L2 - https://www.tandfonline.com/doi/full/10.1080/00207450902869906 DB - PRIME DP - Unbound Medicine ER -