| http://purl.uniprot.org/citations/17294201 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17294201 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00401-007-0196-7"xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/author | "Tazir M."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/author | "Vallat J.M."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/author | "Magdelaine C."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/author | "Sturtz F."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/author | "Magy L."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/author | "Grid D."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/author | "Lagrange E."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/name | "Acta Neuropathol"xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/pages | "443-449"xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/title | "Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance."xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://purl.uniprot.org/core/volume | "113"xsd:string |
| http://purl.uniprot.org/citations/17294201 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17294201 |
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