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Auer-Grumbach, M; Strasser-Fuchs, S; Robl, T; Windpassinger, C; Wagner, K.
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Neurology. 2003; 61(10):1435-1437 Doi: 10.1212/01.WNL.0000094197.46109.75 (- Case Report)
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Leading authors Med Uni Graz: Auer-Grumbach Michaela
Co-authors Med Uni Graz: Fuchs Siegrid; Robl Tanja; Wagner Klaus; Windpassinger Christian
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Abstract:: MPZ gene mutations cause demyelinating and axonal Charcot-Marie-Tooth (CMT) disease. Two novel MPZ mutations are reported in very late onset and progressive CMT syndrome. The N60H caused axonal CMT in a large family, whereas the I62M occurred in a single patient presenting with a primary axonal neuropathy. Previously, chronic polyradiculoneuritis was assumed in two patients. Molecular genetic testing and particularly screening for MPZ mutations in late onset neuropathies are important to differentiate acquired and inherited neuropathies.
Find related publications in this database (using NLM MeSH Indexing): Age of Onset -; Aged -; Base Sequence -; Charcot-Marie-Tooth Disease - diagnosis; DNA Mutational Analysis - diagnosis; Female - diagnosis; Genetic Predisposition to Disease - diagnosis; Humans - diagnosis; Mutation, Missense - diagnosis; Myelin P0 Protein - genetics