%0 Journal Article
%T Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
%A Andriy Tomin
%A Hugh J. McMillan
%A Melissa T. Carter
%A Norbert Weiss
%J Channels
%D 2019
%R https://doi.org/10.1080/19336950.2019.1614415
%X ABSTRACT 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 Cav3.2 T-type calcium channels were identified. Functional analysis of Cav3.2 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
%U https://www.tandfonline.com/doi/full/10.1080/19336950.2019.1614415