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Article

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy

1 Jan 2019

Abstract excerpt

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...

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Identifiers

PMID: 31070086
DOI: 10.1080/19336950.2019.1614415

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