| Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family. | |
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MedLine Citation:
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PMID: 19922348 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Nilufer Sahin-Calapoglu; Mustafa Soyoz; Mustafa Calapoglu; Nurten Ozcelik |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The International journal of neuroscience Volume: 119 ISSN: 1563-5279 ISO Abbreviation: Int. J. Neurosci. Publication Date: 2009 |
Date Detail:
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Created Date: 2009-11-20 Completed Date: 2010-01-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0270707 Medline TA: Int J Neurosci Country: England |
Other Details:
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Languages: eng Pagination: 1179-89 Citation Subset: IM |
Affiliation:
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Department of Medical Biology, Suleyman Demirel University, Faculty of Medicine, Isparta, Turkey. nilufersahin@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age of Onset Aged Charcot-Marie-Tooth Disease / genetics*, pathology Child Child, Preschool DNA / biosynthesis, genetics Demyelinating Diseases / genetics*, pathology Family Female Haplotypes Humans Linkage (Genetics) / genetics Male Mental Retardation / etiology, genetics Middle Aged Muscle Weakness / genetics, pathology Nerve Tissue Proteins / genetics Neurologic Examination Pedigree Turkey Young Adult |
| Chemical | |
Reg. No./Substance:
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0/GDAP protein; 0/Nerve Tissue Proteins; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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