Premium
Charcot–marie–tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene
Author(s) -
Banchs Isabel,
Casasnovas Carlos,
Montero Jordi,
Volpini Victor,
Martínezmatos Juan Antonio
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21643
Subject(s) - tooth disease , mutation , genetics , gene mutation , medicine , gene , degenerative disease , disease , biology , pathology
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