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Charcot–marie–tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene

✍ Scribed by Isabel Banchs; Carlos Casasnovas; Jordi Montero; Victor Volpini; Juan Antonio Martínez-matos

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
511 KB
Volume
42
Category
Article
ISSN
0148-639X

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✦ Synopsis

Abstract

Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (with intermediate conduction velocities). We report a study of seven patients from a four‐generation family. All the affected members of the family had a typical CMT phenotype, but three of them had calf hypertrophy. The nerve conduction velocities (NCV) in all of them were between 35 and 43 m/s. Molecular study revealed the novel mutation Lys214Met in the MPZ gene. Molecular study of the MPZ gene would be useful in cases of CMT in families with intermediate NCV, especially if no mutations in the GJB‐1 gene are found or there is male‐to‐male transmission. Muscle Nerve, 2010

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