Article
Overlapping Phenotype of Cardiomyopathy in Patient With Double Mutation
2020-12-28
Abstract excerpt
Left ventricular noncompaction (LVNC) and hypertrophic cardiomyopathy (HCM) commonly occur as separate disorders with distinct clinical and pathoanatomical features. However, these cardiomyopathies may have a similar genetic origin with mutations encoding sarcomeric proteins. The described case demonstrates an example, in which phenotypic expression of both diseases occurs in the same patient.
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Identifiers and source
- Literature Corpus work
- 22631356-ca36-54d9-990e-6e7d4d4cacd3
- DOI
- 10.20944/preprints202012.0704.v1
