Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

0505495 - ÚOCHB 2020 RIV US eng J - Článek v odborném periodiku
Carter, M. T. - McMillan, H. J. - Tomin, Andriy - Weiss, Norbert
Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.
Channels. Roč. 13, č. 1 (2019), s. 153-161. ISSN 1933-6950. E-ISSN 1933-6969
Institucionální podpora: RVO:61388963
Klíčová slova: congenital amyotrophy * CACNA1H * mutations * calcium channel * Ca(v)3.2 channel * T-type channel
Obor OECD: Biochemistry and molecular biology
Impakt faktor: 2.311, rok: 2019
Způsob publikování: Open access
https://www.tandfonline.com/doi/full/10.1080/19336950.2019.1614415

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.
Trvalý link: http://hdl.handle.net/11104/0296979