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.
|Titolo:||Acute idiopathic polyneuropathy after subcutaneous alemtuzumab (AL) therapy in chronic lymphocytic leukemia (CLL)patients|
|Parole Chiave:||CMT; GJB1; MPZ; Mutation; PMP22|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
Settore MED/15 - Malattie del Sangue
|Data di pubblicazione:||2009|
|Digital Object Identifier (DOI):||10.1111/j.1529-8027.2009.00212.x|
|Appare nelle tipologie:||01 - Articolo su periodico|