New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2

Hereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth disease) is a group of genetically heterogeneous disorders with more than 80 genes linked to different phenotypes, including IGHMBP2 gene responsible for HMSN type 2S (OMIM 616155). Until recently, mutations in IGHMBP2 were exclusive...

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Bibliografiske detaljer
Main Authors:	E. L. Dadali, I. V. Sharkova, S. S. Nikitin, F. A. Konovalov
Format:	Artigo
Sprog:	Russo
Udgivet:	ABV-press 2016-07-01
Serier:	Nervno-Myšečnye Bolezni
Fag:	infantile motor and sensory neuropathy 2s type infant respiratory insufficiency exsome sequencing distal spinal muscular atrophy spinal muscular atrophy with respiratory distress type 1 smard1 dsma1 ighmbp2
Online adgang:	https://nmb.abvpress.ru/jour/article/view/155
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New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2

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