Expanding the phenotype of CACNA1C mutation disorders.
Lindsey Gakenheimer-SmithLindsay MeyersDerek LundahlShaji C MenonT Jared BunchBriana L SawyerMartin Tristani-FirouziSusan P EtheridgePublished in: Molecular genetics & genomic medicine (2021)
Our report expands the cardiac phenotype of CACNA1C variants and reflects the variable expressivity of mutations in the L-type Ca2+ channel.