We report the results of mutational analysis in the following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in 57 Charcot-Marie-Tooth (CMT) patients of Serbian origin without the PMP22 duplication. We found 10 different mutations in 14 CMT patients: 6 mutations in GJB1, 3 in MPZ, and 1 in PMP22. Five of six GJB1 mutations are reported for the first time, and the most frequent one appears to be a founder mutation in the Serbian population. No mutations were found in EGR2 or LITAF. Thus, GJB1 mutation analysis should be done in patients without the PMP22 duplication and male-to-male transmission of CMT.
Acute idiopathic polyneuropathy after subcutaneous alemtuzumab (AL) therapy in chronic lymphocytic leukemia (CLL) patients / G. Reda, R. Castelli, K. Aprile von Hohenstaufen Puoti, N. Orofino, G. Conti, A. Cortelezzi, N. Bresolin. - In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. - ISSN 1085-9489. - 14:Suppl. 2(2009), pp. 125-125. (Intervento presentato al convegno International peripheral nerve society meeting tenutosi a Wurzburg nel 2009).
Acute idiopathic polyneuropathy after subcutaneous alemtuzumab (AL) therapy in chronic lymphocytic leukemia (CLL) patients
G. Reda;R. Castelli;K. Aprile von Hohenstaufen Puoti;A. Cortelezzi;N. Bresolin
2009
Abstract
We report the results of mutational analysis in the following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in 57 Charcot-Marie-Tooth (CMT) patients of Serbian origin without the PMP22 duplication. We found 10 different mutations in 14 CMT patients: 6 mutations in GJB1, 3 in MPZ, and 1 in PMP22. Five of six GJB1 mutations are reported for the first time, and the most frequent one appears to be a founder mutation in the Serbian population. No mutations were found in EGR2 or LITAF. Thus, GJB1 mutation analysis should be done in patients without the PMP22 duplication and male-to-male transmission of CMT.
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