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.

Luigetti, M., Modoni, A., Renna, R., Silvestri, G., Ricci, E., Montano, N., Tasca, G., Papacci, M., Monforte, M., Conte, A., Pomponi, M., Sabatelli, M., A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia, <<CLINICAL NEUROLOGY AND NEUROSURGERY>>, 2010; 112 (9): 794-797. [doi:10.1016/j.clineuro.2010.05.001] [http://hdl.handle.net/10807/4302]

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

Luigetti, Marco;Modoni, Anna;Renna, Rosaria;Silvestri, Gabriella;Ricci, Enzo;Montano, Nicola;Tasca, Giordano;Papacci, Manuela;Monforte, Mauro;Conte, Amelia;Sabatelli, Mario
2010

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.
eng
Luigetti, M., Modoni, A., Renna, R., Silvestri, G., Ricci, E., Montano, N., Tasca, G., Papacci, M., Monforte, M., Conte, A., Pomponi, M., Sabatelli, M., A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia, <>, 2010; 112 (9): 794-797. [doi:10.1016/j.clineuro.2010.05.001] [http://hdl.handle.net/10807/4302]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/4302
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