CMT with intermediate conduction velocities caused by a novel mutation in the MP

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Muscle Nerve. 2010 May 18

Charcot-marie-tooth disease with intermediate conduction velocities caused by a

novel mutation in the MPZ gene.

Banchs I, Casasnovas C, Montero J, Volpini V, Martínez-Matos JA.

Centre per el Diagnóstic Genètic i Molecular de Malaties Hereditaries, Intitut

de Investigacions biomèdiques de Bellvitge (Idibell), Barcelona, Spain.

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.