A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins

A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins

Hereditary motor-sensory neuropathy (MIM 118200) is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic bone disease with an autosomal dominant mode o...

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Bibliographic Details
Main Authors: V. P. Fedotov, S. A. Kurbatov, S. S. Nikitin, T. B. Milovidova, N. M. Galeeva, A. V. Polyakov
Format: Article
Language:Russian
Published: ABV-press 2015-05-01
Series:Нервно-мышечные болезни
Subjects:
hereditary motor sensory neuropathy (hmsn)
hmsn type 1b
myelinopathy
multiple osteochondromas
multiple exostoses
chondrodysplasia
electromyography
mutations
mpz gene
ext2 gene
autosomal dominant inheritance
monozygotic twins
Online Access:https://nmb.abvpress.ru/jour/article/view/110
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