[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene]

Hereditary motor-sensor neuropathy (HMSN) caused by mutations in the MPZ (P0) gene is a rare variant of hereditary demyelinating polyneuropathies that makes up 5-10% of all cases in different populations. Based on the complex examination of patients of the Russian Federation with different MPZ (P0) mutations, we obtained clinical-genetic, electromyographic and molecular-genetic characteristics of HMSN caused by mutations in the MPZ (P0) gene. Peculiarities of clinical presentations in patients with HMSN, types 1B and 2I, are presented. Diagnostic criteria of these genetic variants have been formed. The new allelic variants of HMSN caused by mutations in the MPZ (P0) gene are described. The distribution of mutations by protein domains has been analyzed.