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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Hlavní autoři: E. L. Dadali, I. V. Sharkova, S. S. Nikitin, F. A. Konovalov
Médium: Artigo
Jazyk:Russo
Vydáno: ABV-press 2016-07-01
Edice:Nervno-Myšečnye Bolezni
Témata:
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
On-line přístup:https://nmb.abvpress.ru/jour/article/view/155
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