G.P.32 Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene

2012 ◽  
Vol 22 (9-10) ◽  
pp. 817-818
Author(s):  
A. Sarkozy ◽  
T. Polvikoski ◽  
M. Eagle ◽  
H. Lochmüller ◽  
K. Bushby ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Dilated Cardiomyopathy ◽  
Novel Mutation ◽  
Severe Scoliosis ◽  
Core Myopathy

Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy

The Lancet ◽  
2004 ◽  
Vol 363 (9406) ◽  
pp. 371-372 ◽  
Author(s):  
Ross T Murphy ◽  
Jens Mogensen ◽  
Anthony Shaw ◽  
Toru Kubo ◽  
Sian Hughes ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Cardiac Troponin ◽  
Troponin I ◽  
Novel Mutation ◽  
Cardiac Troponin I ◽  
Idiopathic Dilated Cardiomyopathy

scholarly journals A Case of Nemaline Myopathy With Associated Dilated Cardiomyopathy and Respiratory Failure

2011 ◽  
Vol 52 (6) ◽  
pp. 401-405 ◽  
Author(s):  
Rihito Nagata ◽  
Daisuke Kamimura ◽  
Yoji Suzuki ◽  
Toshihiko Saito ◽  
Hideshi Toyama ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Dilated Cardiomyopathy ◽  
Nemaline Myopathy

Novel Mutation in Splicing Donor of Dystrophin Gene First Exon in a Patient With Dilated Cardiomyopathy but No Clinical Signs of Skeletal Myopathy

2007 ◽  
Vol 22 (7) ◽  
pp. 901-906 ◽  
Author(s):  
Shigemi Kimura ◽  
Makoto Ikezawa ◽  
Shiro Ozasa ◽  
Kaori Ito ◽  
Hiroe Ueno ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Novel Mutation ◽  
Clinical Signs ◽  
Dystrophin Gene ◽  
Skeletal Myopathy

A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy

2002 ◽  
Vol 89 (1) ◽  
pp. 29-33 ◽  
Author(s):  
Noboru Fujino ◽  
Masami Shimizu ◽  
Hidekazu Ino ◽  
Masato Yamaguchi ◽  
Toshihiko Yasuda ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Cardiac Troponin ◽  
Troponin T ◽  
Novel Mutation ◽  
Cardiac Troponin T ◽  
High Degree

scholarly journals Sarcomeric perturbations of myosin motors lead to dilated cardiomyopathy in genetically modified MYL2 mice

2018 ◽  
Vol 115 (10) ◽  
pp. E2338-E2347 ◽  
Author(s):  
Chen-Ching Yuan ◽  
Katarzyna Kazmierczak ◽  
Jingsheng Liang ◽  
Zhiqun Zhou ◽  
Sunil Yadav ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Novel Mutation ◽  
Systolic Dysfunction ◽  
Thick Filament ◽  
The United States ◽  
Left Ventricular ◽  
X Ray Diffraction ◽  
Gene Encoding ◽  
Underlying Mechanisms ◽  
Myosin Motors

Dilated cardiomyopathy (DCM) is a devastating heart disease that affects about 1 million people in the United States, but the underlying mechanisms remain poorly understood. In this study, we aimed to determine the biomechanical and structural causes of DCM in transgenic mice carrying a novel mutation in the MYL2 gene, encoding the cardiac myosin regulatory light chain. Transgenic D94A (aspartic acid-to-alanine) mice were created and investigated by echocardiography and invasive hemodynamic and molecular structural and functional assessments. Consistent with the DCM phenotype, a significant reduction of the ejection fraction (EF) was observed in ∼5- and ∼12-mo-old male and female D94A lines compared with respective WT controls. Younger male D94A mice showed a more pronounced left ventricular (LV) chamber dilation compared with female counterparts, but both sexes of D94A lines developed DCM by 12 mo of age. The hypocontractile activity of D94A myosin motors resulted in the rightward shift of the force–pCa dependence and decreased actin-activated myosin ATPase activity. Consistent with a decreased Ca2+ sensitivity of contractile force, a small-angle X-ray diffraction study, performed in D94A fibers at submaximal Ca2+ concentrations, revealed repositioning of the D94A cross-bridge mass toward the thick-filament backbone supporting the hypocontractile state of D94A myosin motors. Our data suggest that structural perturbations at the level of sarcomeres result in aberrant cardiomyocyte cytoarchitecture and lead to LV chamber dilation and decreased EF, manifesting in systolic dysfunction of D94A hearts. The D94A-induced development of DCM in mice closely follows the clinical phenotype and suggests that MYL2 may serve as a new therapeutic target for dilated cardiomyopathy.

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