Charcot–marie–tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene |
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| Authors: | Isabel Banchs BSc Carlos Casasnovas MD Jordi Montero MD PhD Victor Volpini MD PhD Juan Antonio Martínez‐matos MD PhD |
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| Affiliation: | 1. Centre per el Diagnóstic Genètic i Molecular de Malaties Hereditaries, Intitut de Investigacions biomèdiques de Bellvitge (Idibell), Barcelona, Spain;2. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, C/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain;3. Centro investigación biomédica en red para enfermedades neurodegenerativas (Ciberned), Barcelona, Spain |
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| 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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| Keywords: | CMTID Charcot CMT MPZ intermediate NCV |
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