A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

Marco Luigetti, Anna Modoni, R. Renna, Gabriella Silvestri, Enzo Ricci, Nicola Montano, Giorgio Tasca, M. Papacci, Mauro Monforte, Amelia Conte, M. G. Pomponi, Mario Sabatelli

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11 Citations (Scopus)


Charcot-Marie-Tooth disease (CMT) is a group of clinically and genetically heterogeneous neuropathies classically divided into demyelinating (CMT1) and axonal forms (CMT2). The most common demyelinating form is CMT1A, due to a duplication in the gene encoding the peripheral myelin protein 22 (PMP22). Less frequently, mutations in the myelin protein zero gene (MPZ/P0) account for demyelinating CMT1B. Herein, we report a patient presenting with an isolated hyperCKemia in whom electrophysiological and pathological findings revealed a demyelinating and axonal neuropathy. Sequencing of the MPZ gene revealed a 306delA at codon 102 in the proband and in two relatives. This mutation has been already described in association with paucisymptomatic CMT without hyperCKemia
Original languageEnglish
Pages (from-to)794-797
Number of pages4
JournalClinical Neurology and Neurosurgery
Publication statusPublished - 2010


  • Charcot- Marie Tooth neuropathy


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