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Doctor Koichi Kato

Shiga University of Medical Science, Otsu (Japan)
Membership: ESC Professional Member
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Variant-specific mechanisms of KCNJ2 dysfunction and their genotype–phenotype correlations in Andersen–Tawil syndrome
Presentation
Variant-specific mechanisms of KCNJ2 dysfunction and their genotype–phenotype correlations in Andersen–Tawil syndrome
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The dominant-negative effect of Loss of function Nav 1.5 variants is not a critical determinant of phenotype severity
Presentation
The dominant-negative effect of Loss of function Nav 1.5 variants is not a critical determinant of phenotype severity
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Splice site mutation of LMNA causes severe dilated cardiomyopathy via strong dominant reduction of total lamin expression
Presentation
Splice site mutation of LMNA causes severe dilated cardiomyopathy via strong dominant reduction of total lamin expression
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