Article
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.
Clinical neurology and neurosurgery - 1 Nov 2010
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
Abstract excerpt
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...
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