Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study.

Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study. Acta Myol. 2019 Sep;38(3):159-162 Authors: Alfarih M, Syrris P, Arbustini E, Augusto JB, Hughes A, Lloyd G, Lopes LR, Moon JC, Mohiddin S, Captur G Abstract In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardiomyopathy with non-infarct pattern midwall septal fibrosis, heart failure and thromboembolic complications. PMID: 31788659 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research