...: The proband and his relatives underwent full cardiological assessment. Genetic analysis of the proband was performed with the use of next-generation sequencing technology. Results: In this study, we present 6 members of a family carrying the RBM20 mutation NM_001134363.2:c.1900C>T. The proband...

... disease genes including desmin ( DES ) have been identified to be associated with DCM. At present, most DES mutations are reported in desmin-related myofibrilla myopathy patients, but variants leading to isolated DCM are rarely reported. Methods: We applied whole-exome sequencing and cardiomyopathy...

...Olga Azevedo; Miguel Gago; Gabriel Miltenberger-Miltenyi; Paulo Gaspar; Nuno Sousa; Damião Cunha We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene...

... of families with congenital long QT syndrome (LQTS) in Danish heart centers. Methods: Affected family members were identified through systematic family screening. Results: In total, 228 affected relatives were identified from 90 families. A disease-causing mutation useful for presymptomatic genetic testing...

...R. Walsh; C. Rutland; R. Thomas; S. Loughna Background: Mutations in myosin heavy chain 7 (MYH7) commonly cause cardiomyopathy. However, the relationship between mutation location, cardiomyopathy type, change in amino acid composition and disease severity is poorly understood. This systematic...

... Electrocardiogram Myopathy Neuromuscular disorder Echocardiography Mutation Recent investigations suggest that cardiac involvement (CI) in facioscapulohumeral muscular dystrophy (FSHMD) is a feature of the disease in quite a number of patients [ 1, 2, 3, 4 ]. CI in FSHMD usually manifests clinically...

...Klaus Pethig; Janine Genschel; Tina Peters; Mathias Wilhelmi; Peer Flemming; Herbert Lochs; Axel Haverich; Hartmut H.-J. Schmidt Lamin A and C are components of the nuclear envelope, located at the nucleoplasmatic surface of the inner nuclear membrane within cells. Recently, mutations within LMNA...

...Tong-Lang Lin; Sahoko Ichihara; Yoshiji Yamada; Tetsuo Nagasaka; Hitoshi Ishihara; Nobuo Nakashima; Mitsuhiro Yokota Mutation of the cardiac troponin T (cTnT) gene is a genetic determinant of familial hypertrophic cardiomyopathy (HCM). A Japanese family of 14 individuals, including 6 with HCM...