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Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
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SYSNO ASEP 0505495 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy Tvůrce(i) Carter, M. T. (CA)
McMillan, H. J. (CA)
Tomin, Andriy (UOCHB-X)
Weiss, Norbert (UOCHB-X) ORCID, RIDZdroj.dok. Channels . - : Taylor & Francis - ISSN 1933-6950
Roč. 13, č. 1 (2019), s. 153-161Poč.str. 9 s. Jazyk dok. eng - angličtina Země vyd. US - Spojené státy americké Klíč. slova congenital amyotrophy ; CACNA1H ; mutations ; calcium channel ; Ca(v)3.2 channel ; T-type channel Vědní obor RIV CE - Biochemie Obor OECD Biochemistry and molecular biology Způsob publikování Open access Institucionální podpora UOCHB-X - RVO:61388963 UT WOS 000467823400001 EID SCOPUS 85065771983 DOI 10.1080/19336950.2019.1614415 Anotace Neuromuscular disorders encompass a wide range of conditions often associated with a genetic component. In the present study, we report a patient with severe infantile-onset amyotrophy in whom two compound heterozygous variants in the gene CACNA1H encoding for Ca(v)3.2 T-type calcium channels were identified. Functional analysis of Ca(v)3.2 variants revealed several alterations of the gating properties of the channel that were in general consistent with a loss-of-channel function. Taken together, these findings suggest that severe congenital amyoplasia may be related to CACNA1H and would represent a new phenotype associated with mutations in this gene. Pracoviště Ústav organické chemie a biochemie Kontakt asep@uochb.cas.cz ; Kateřina Šperková, Tel.: 232 002 584 ; Viktorie Chládková, Tel.: 232 002 434 Rok sběru 2020 Elektronická adresa https://www.tandfonline.com/doi/full/10.1080/19336950.2019.1614415
Počet záznamů: 1