Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly
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DOI: 10.1038/s41439-025-00327-x
Abstract: Here we report a de novo heterozygous MED13 variant (c.2503C>T, p.Pro835Ser) in an infant presenting with infantile spasms, hypertrophic cardiomyopathy and hepatomegaly. Autopsy revealed mitochondrial abnormalities in cardiac and hepatic tissues, with reduced respiratory chain… read more here.
Keywords: infantile spasms; med13 variant; mitochondrial dysfunction; case ... See more keywords