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dc.contributor.author Gabbasova E.L.
dc.contributor.author Komissarov A.E.
dc.contributor.author Agranovich O.E.
dc.contributor.author Savina M.V.
dc.contributor.author Kochenova E.A.
dc.contributor.author Trofimova S.I.
dc.contributor.author Slobodina A.D.
dc.contributor.author Shagimardanova E.
dc.contributor.author Shigapova L.
dc.contributor.author Sarantceva S.V.
dc.date.accessioned 2021-02-25T21:01:14Z
dc.date.available 2021-02-25T21:01:14Z
dc.date.issued 2020
dc.identifier.issn 2309-3994
dc.identifier.uri https://dspace.kpfu.ru/xmlui/handle/net/162904
dc.description.abstract © E .L. Gabbasova, A.E. Komissarov, O.E. Agranovich, M.V. Savina, E.A. Kochenova, S.I. Trofimova, A.D. Slobodina, E. Shagimardanova, L. Shigapova, S.V. Sarantceva. Background. Congenital contractures are a heterogeneous group of diseases with different prognosis and different treatment modalities. Clinical case. This article describes a family case of hereditary sensory motor polyneuropathy caused by the mutation of с.943G>A (р.Arg315Trp) in the transient receptor potential vanilloid cation channel 4 (TRPV4) (NM_021625.4). The patient’s clinical and neurological characteristics as well as the results of genetic and neurophysiological examinations are presented. Discussion. Most often, mutations in the TRPV4 lead to 3 main diseases: Autosomal dominant hereditary sensory motor neuropathy, type 2C, scapuloperoneal spinal muscular atrophy, and congenital non-progressive distal spinal muscular atrophy with contractures. The present article describes in detail the differential diagnosis of hereditary sensory motor polyneuropathy to facilitate accurate verification of this disease by clinicians. Conclusion. Patients with congenital multiple contractures need cooperative observation and examination by orthopedic surgeons and neurologists, including neurophysiological and genetic interventions in the examination plan for disease verification in order to optimize the treatment strategy and to predict the outcomes.
dc.relation.ispartofseries Pediatric Traumatology, Orthopaedics and Reconstructive Surgery
dc.subject Arthrogryposis
dc.subject DNA sequence
dc.subject Sensory motor polyneuropathy
dc.subject The gene TRPV4
dc.title Hereditary sensory motor polyneuropathy
dc.type Article
dc.relation.ispartofseries-issue 3
dc.relation.ispartofseries-volume 8
dc.collection Публикации сотрудников КФУ
dc.relation.startpage 333
dc.source.id SCOPUS23093994-2020-8-3-SID85096024242


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  • Публикации сотрудников КФУ Scopus [24551]
    Коллекция содержит публикации сотрудников Казанского федерального (до 2010 года Казанского государственного) университета, проиндексированные в БД Scopus, начиная с 1970г.

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