Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Issue 1 (1st January 2019)

• Record Type: Journal Article
• Authors: Carter, Melissa T.; McMillan, Hugh J.; Tomin, Andriy; Weiss, Norbert
• Is Part Of: Channels. Volume 13:Issue 1(2019)
• Page Start: 153
• Page End: 161
• Publication Date: 2019-01-01
• Subjects: Congenital amyotrophy -- CACNA1H -- mutations -- calcium channel -- Cav3.2 channel -- T-type channel; Ion channels -- Periodicals; 572.3
• DOI: 10.1080/19336950.2019.1614415
• Languages: English
• ISSNs: 1933-6950

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 Cav 3.2 T-type calcium channels were identified. Functional analysis of Cav 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.