Article (Scientific journals)
X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
Senderek, J.; Bergmann, C.; Quasthoff, S. et al.
1998In Acta Neuropathologica, 95 (5), p. 443-9
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X-linked dominant Charcot-Marie-Tooth disease, nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln)..pdf
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Keywords :
Adolescent; Charcot-Marie-Tooth Disease/genetics/metabolism/pathology; Connexins/genetics/metabolism; DNA/analysis/genetics; Female; Genes, Dominant/genetics; Genetic Linkage; Humans; Male; Middle Aged; Mutation/genetics; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sural Nerve/pathology; X Chromosome
Abstract :
[en] X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data, CMTX patients often meet the criteria of autosomal-dominant CMT2, the neuronal type of CMT. Hence, it might be useful to analyse the connexin32 gene in suspected CMT2 patients when there is no male-to-male transmission. We selected a cohort of 30 patients who were considered having CMT2 on the basis of previous clinical and histopathological evaluation. DNA was extracted from paraffin-embedded sural nerve biopsy samples and screened for connexin32 mutations to verify the possible diagnosis of CMTX. In 2 patients mutations were found corresponding to amino acid substitutions of arginine for tryptophan in codon 15 and arginine for glutamine in codon 22 of connexin32. This study illustrates that archival material allows genetic classification of suspected CMT cases. Furthermore, there is additional proof that connexin32 mutations represent the underlying genetic defect in some cases of predominantly neuronal CMT.
Disciplines :
Pediatrics
Neurology
Author, co-author :
Senderek, J.;  Universitätsklinikum der RWTH, Aachen, Germany > Institut für Neuropathologie
Bergmann, C.;  Universitätsklinikum der RWTH, Aachen, Germany > Institut für Neuropathologie
Quasthoff, S.;  Neurologische Klinik der Technischen Universität, Klinikum rechts der Isar, München, Germany
RAMAEKERS, Vincent ;  Kinderklinik, Universitätsklinikum der Rheinisch-Westfälischen Technischen Hochschule Aachen, Aachen, Germany
Schroder, J. M.;  Universitätsklinikum der RWTH, Aachen, Germany > Institut für Neuropathologie
Language :
English
Title :
X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
Publication date :
May 1998
Journal title :
Acta Neuropathologica
ISSN :
0001-6322
eISSN :
1432-0533
Publisher :
Springer, Germany
Volume :
95
Issue :
5
Pages :
443-9
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 June 2014

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