Hypertrophic cardiomyopathy is identified as a novel phenotypic feature in NSUN3-related mitochondrial disease based on the first reported case.
Identifies hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease.
Absolute Event Rate: 0% vs 0%
To our knowledge, this is the first reported case of NSUN3-related mitochondrial disease with HCM. An increasing number of reported cases will likely contribute to a more comprehensive understanding of the clinical phenotype and genotype-phenotype correlations.
Ersak et al. (Mon,) reported a other. Hypertrophic cardiomyopathy is identified as a novel phenotypic feature in NSUN3-related mitochondrial disease based on the first reported case.
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