Document Detail

Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family.
MedLine Citation:
PMID:  19922348     Owner:  NLM     Status:  MEDLINE    
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.
Nilufer Sahin-Calapoglu; Mustafa Soyoz; Mustafa Calapoglu; Nurten Ozcelik
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The International journal of neuroscience     Volume:  119     ISSN:  1563-5279     ISO Abbreviation:  Int. J. Neurosci.     Publication Date:  2009  
Date Detail:
Created Date:  2009-11-20     Completed Date:  2010-01-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0270707     Medline TA:  Int J Neurosci     Country:  England    
Other Details:
Languages:  eng     Pagination:  1179-89     Citation Subset:  IM    
Department of Medical Biology, Suleyman Demirel University, Faculty of Medicine, Isparta, Turkey.
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MeSH Terms
Age of Onset
Charcot-Marie-Tooth Disease / genetics*,  pathology
Child, Preschool
DNA / biosynthesis,  genetics
Demyelinating Diseases / genetics*,  pathology
Linkage (Genetics) / genetics
Mental Retardation / etiology,  genetics
Middle Aged
Muscle Weakness / genetics,  pathology
Nerve Tissue Proteins / genetics
Neurologic Examination
Young Adult
Reg. No./Substance:
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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