Clinical and genetic characteristcs of hereditary motor and sensory neuropathy type IIA

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Abstract

In this study, clinical manifestations of hereditary motor and sensory neuropathy type IIA (HMSN IIA, or Charcot–Marie–Tooth disease type 2A) were analyzed in 22 patients with the disease caused by different mutations of the MFN2 gene. Molecular genetic analysis showed that in the examined cohort of Russian families with axonal form of hereditary motor and sensory neuropathy, HMSN IIA accounted for 17% cases. Eighteen from 22 patients under observation were members of three large families with the disease segregating in two or more generations, which enabled us to determine the scope of clinical polymorphism of HMSN IIA, as well as to assess intra and interfamilial variability of clinical features and follow up the dynamics of clinical phenotype formation upon the disease progression.

About the authors

E. L. Dadali

Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow

Author for correspondence.
Email: platonova@neurology.ru
Russian Federation

O. A. Schagina

Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow

Email: platonova@neurology.ru
Russian Federation

V. P. Fedotov

Voronezh Regional Clinical and Diagnostic Centre and Genetics Consulting Centre, Voronezh

Email: platonova@neurology.ru
Russian Federation

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Copyright (c) 2007 Dadali E.L., Schagina O.A., Fedotov V.P.

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