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

作者：Luigetti M^*; Modoni A; Renna R; Silvestri G; Ricci E; Montano N; Tasca G; Papacci M; Monforte M; Conte A; Pomponi M G; Sabatelli M

来源：Clinical Neurology and Neurosurgery, 2010, 112(9): 794-797.

DOI：10.1016/j.clineuro.2010.05.001

• HyperCKemia
• Inherited neuropathy
• MPZ
• Sural nerve biopsy
• Electromyography

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.

• 出版日期2010-11
• 单位河北医科大学