Skip Nav Destination
1-8 of 8
Malena P. Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Dimitrios Tsiapras, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos, Dimitrios Degiannis
Cardiology (2019) 141 (3): 150–155.
Published Online: 17 December 2018
...: 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...
Cardiology (2017) 137 (2): 78–82.
Published Online: 08 February 2017
... 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...
Cardiology (2017) 137 (2): 67–73.
Published Online: 03 February 2017
...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...
Juliane Theilade, Jørgen Kanters, Finn Lund Henriksen, Michael Gilså-Hansen, Jesper Hastrup Svendsen, Ole Eschen, Egon Toft, Jesper Irving Reimers, Anne Tybjærg-Hansen, Michael Christiansen, Henrik Kjærulf Jensen, Henning Bundgaard
Cardiology (2013) 126 (2): 131–137.
Published Online: 21 August 2013
... 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...
Cardiology (2009) 115 (1): 49–60.
Published Online: 27 October 2009
...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...
Cardiology (2005) 103 (2): 81–83.
Published Online: 07 February 2005
... 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
Cardiology (2005) 103 (2): 57–62.
Published Online: 07 February 2005
...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
Cardiology (2000) 93 (3): 155–162.
Published Online: 14 August 2000
...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...