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

Gabriella Silvestri, Enzo Ricci, Nicola Montano, Mario Sabatelli, Marco Luigetti, Anna Modoni, Giorgio Tasca, Mauro Monforte, Amelia Conte

Risultato della ricerca: Contributo in rivistaArticolo in rivista

10 Citazioni (Scopus)

Abstract

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
Lingua originaleEnglish
pagine (da-a)794-797
Numero di pagine4
RivistaClinical Neurology and Neurosurgery
Stato di pubblicazionePubblicato - 2010

Keywords

  • Charcot- Marie Tooth neuropathy

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