Journal article
M. Carter, H. McMillan, A. Tomin, N. Weiss
Channels, 2019
Channels, 2019
Semantic Scholar
DOI
PubMedCentral
PubMed
Cite
Cite
APA
Carter, M., McMillan, H., Tomin, A., & Weiss, N. (2019). Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Channels.
Chicago/Turabian
Carter, M., H. McMillan, A. Tomin, and N. Weiss. “Compound Heterozygous CACNA1H Mutations Associated with Severe Congenital Amyotrophy.” Channels (2019).
MLA
Carter, M., et al. “Compound Heterozygous CACNA1H Mutations Associated with Severe Congenital Amyotrophy.” Channels, 2019.
Abstract
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.