期刊
CHANNELS
卷 13, 期 1, 页码 153-161出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/19336950.2019.1614415
关键词
Congenital amyotrophy; CACNA1H; mutations; calcium channel; Ca(v)3; 2 channel; T-type channel
资金
- Institute of Organic Chemistry and Biochemistry (IOCB)
- IOCB
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.
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