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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: Two CMT 1B cases with pseudo-recessive inheritance
Acta Neuropathologica, Volume 113, No. 4, Year 2007
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Description
We report two sporadic patients of CMT disease in different consanguineous families. The electrophysiological examination led to the diagnosis of a severe demyelinating neuropathy. The nerve biopsies exhibited numerous outfoldings of the myelin sheaths and onion-bulb proliferations. The consanguinity and the histological findings pointed to a diagnosis of CMT 4B. However, the detection of abnormal and regular widenings between the major dense lines of the myelin lamellae by electron microscopy led us to search for a P0 gene mutation. Two heterozygous mutations of this gene were identified: S63F and N131Y. Different aspects of uncompacted myelin lamellae have been described in some cases of P0 mutations and a few now appear to be quite specific to it. More than 30 genes are implicated in CMT and as mutation search is time- and money-consuming, we believe that in some selected patients ultrastructural examination of nerves, among other criteria, helps orientate the molecular diagnosis of CMT. © Springer-Verlag 2007.
Authors & Co-Authors
Vallat, Jean Michel
France, Limoges
Chu de Limoges
Magy, Laurent
France, Limoges
Chu de Limoges
Lagrange, Emmeline
France, Limoges
Chu de Limoges
Sturtz, Franck G.
France, Limoges
Chu de Limoges
Magdelaine, Corinne
France, Evry
Généthon
Grid, Djamel
France, Limoges
Chu de Limoges
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Statistics
Citations: 19
Authors: 7
Affiliations: 3
Identifiers
Doi:
10.1007/s00401-007-0196-7
ISSN:
00016322
Research Areas
Cancer
Genetics And Genomics