Journal article
M. Carter, H. McMillan, A. Tomin, N. Weiss
Channels, 2019
Channels, 2019
Semantic Scholar
DOI
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APA
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Carter, M., McMillan, H., Tomin, A., & Weiss, N. (2019). Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Channels.
Chicago/Turabian
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Carter, M., H. McMillan, A. Tomin, and N. Weiss. “Compound Heterozygous CACNA1H Mutations Associated with Severe Congenital Amyotrophy.” Channels (2019).
MLA
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Carter, M., et al. “Compound Heterozygous CACNA1H Mutations Associated with Severe Congenital Amyotrophy.” Channels, 2019.
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@article{m2019a,
title = {Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy},
year = {2019},
journal = {Channels},
author = {Carter, M. and McMillan, H. and Tomin, A. and Weiss, N.}
}
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.
