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Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
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SYSNO ASEP 0505495 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy Author(s) Carter, M. T. (CA)
McMillan, H. J. (CA)
Tomin, Andriy (UOCHB-X)
Weiss, Norbert (UOCHB-X) ORCID, RIDSource Title Channels . - : Taylor & Francis - ISSN 1933-6950
Roč. 13, č. 1 (2019), s. 153-161Number of pages 9 s. Language eng - English Country US - United States Keywords congenital amyotrophy ; CACNA1H ; mutations ; calcium channel ; Ca(v)3.2 channel ; T-type channel Subject RIV CE - Biochemistry OECD category Biochemistry and molecular biology Method of publishing Open access Institutional support UOCHB-X - RVO:61388963 UT WOS 000467823400001 EID SCOPUS 85065771983 DOI 10.1080/19336950.2019.1614415 Annotation 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. Workplace Institute of Organic Chemistry and Biochemistry Contact asep@uochb.cas.cz ; Kateřina Šperková, Tel.: 232 002 584 ; Jana Procházková, Tel.: 220 183 418 Year of Publishing 2020 Electronic address https://www.tandfonline.com/doi/full/10.1080/19336950.2019.1614415
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