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Point mutations in genes encoding the subunits of the cardiac troponin complex are known to result in various forms of cardiomyopathy. We report a clinical case of a 1-year old… Click to show full abstract
Point mutations in genes encoding the subunits of the cardiac troponin complex are known to result in various forms of cardiomyopathy. We report a clinical case of a 1-year old female who presented in the neonatal period with severe dilated cardiomyopathy (DCM) and hypotonia. Whole-exome sequencing detected a previously unreported heterozygous variant of uncertain clinical significance in exon 1 of the TNNC1 gene, c.12C>G (p.Ile4Met). This variant was not detected in the proband's parents, suggesting that this variant has likely arisen de novo.
Journal Title: Biophysical Journal
Year Published: 2017
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