Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance

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 consanguinit...

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Veröffentlicht in:	Acta neuropathologica 2007-04, Vol.113 (4), p.443-449
Hauptverfasser:	Vallat, Jean-Michel, Magy, Laurent, Lagrange, Emmeline, Sturtz, Franck, Magdelaine, Corinne, Grid, Djamel, Tazir, Mériem
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Asparagine - genetics Charcot-Marie-Tooth Disease - diagnosis Charcot-Marie-Tooth Disease - genetics Child Consanguinity Demyelinating Diseases - genetics Demyelinating Diseases - physiopathology DNA Mutational Analysis - methods Female Genes, Recessive Humans Microscopy, Electron, Transmission Mutation Myelin P0 Protein - genetics Myelin Sheath - ultrastructure Peripheral Nerves - pathology Peripheral Nerves - ultrastructure Phenylalanine - genetics Serine - genetics Tyrosine - genetics
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