Diagnostic utility of exome sequencing for inherited peripheral neuropathies

Diagnostic utility of exome sequencing for inherited peripheral neuropathies

Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study – to assess the extent of genetic heterogeneity of hereditary motor and sensory neuropathies in Russian patients and to...

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Bibliographic Details
Main Authors: O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov
Format: Article
Language:Russian
Published: ABV-press 2020-12-01
Series:Nervno-Myšečnye Bolezni
Subjects:
hereditary motor and sensory neuropathy
hmsn
charcot–marie–tooth disease
cmt
whole exome sequencing
wes
inherited peripheral neuropathy
Online Access:https://nmb.abvpress.ru/jour/article/view/404

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https://nmb.abvpress.ru/jour/article/view/404

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