Results 221 to 230 of about 18,051 (238)

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

Neuromuscular Disorders, 2011
A 25-year-old woman had childhood-onset muscle weakness and dilated cardiomyopathy. She exhibited predominantly distal weakness with early toe walking. Dilated cardiomyopathy required cardiac transplantation at age 15 years. We identified a de-novo, heterozygous, missense mutation, c.2348G>C (p.
Houman, Homayoun, Simin, Khavandgar, Jacqueline M, Hoover, Al-Walid, Mohsen, Jerry, Vockley, David, Lacomis, Paula R, Clemens   +6 more
openaire   +2 more sources

Coexisting TIA1 and MYH7 distal myopathy

Neuromuscular Disorders, 2015
P. Brand, P. Dyck, J. Liu, S. Berini, D. Selcen, M. Milone   +5 more
openaire   +1 more source

[Recent research on childhood hypertrophic cardiomyopathy caused by MYH7 gene mutations].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2023
Kui Zheng, Lu Liu, Ying-qian Zhang
semanticscholar   +1 more source

MYH7 mutations induce changes in single cell mechanobiology

Biophysical Journal, 2023
Beth L. Pruitt, Cheavar A. Blair, Erica A. Castillo, Orlando Chirikian, Liam Dow, Samuel D. Feinstein, Marissa Gionet-Gonzales, Kerry V. Lane, Miguel Sanchez Lozano, Alison S. Vander Roest, Gabriela Villalpando Torres   +10 more
openaire   +1 more source

New Genetic Variant in the MYH7 Gene Associated With Hypoplastic Right Heart Syndrome and Hypertrophic Cardiomyopathy in the Same Family.

Circulation Genomic and Precision Medicine, 2023
Elizaveta Polyakova, J. V. van Gils, Lauran Stöger, P. Kiès, A. Egorova, T. Koopmann, Tessa van Dijk, M. DeRuiter, D. Barge-Schaapveld, M. Jongbloed   +9 more
semanticscholar   +1 more source

Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy.

Current problems in cardiology, 2023
Lanlan Zhang, Yanmin Zhang, Jing Wang, Shengjun Ta, Jia Zhao, Lu Yao, Chao Han, Jiao Liu, Xueli Zhao, Jiarui Yuan, Ruoxuan Li, Bo Shan, Yue Wang, Yuze Qin, Bo Wang, Liwen Liu   +15 more
semanticscholar   +1 more source

Impact of MYH7 gene polymorphism and lifestyle factors on cardiomyopathy susceptibility in Jammu: a case–control analysis

The Nucleus
Shikha Bharti, Shashank Garg, R. K. Panjaliya, Dharminder Kumar, Mohd Younis, Najitha Banu, Parvinder Kumar   +6 more
semanticscholar   +1 more source

Gene symbol: MYH7.

Human genetics, 2007
M R, Iascone, D, Marchetti, P, Ferrazzi
openaire   +2 more sources

P05.02: Prenatal ultrasound diagnosis of MYH7 noncompaction cardiomyopathy

Ultrasound in Obstetrics & Gynecology, 2011
T. Cohen‐Overbeek, Y. M. Hoedemaekers, E. M. Schoonderwaldt, I. M. Frohn‐Mulder, M. Dalinghaus, L. Govaerts, K. Caliskan, D. Dooijes, D. Majoor‐Krakauer   +8 more
openaire   +1 more source

Atrial Fibrillation Substrate and Catheter Ablation Outcomes in MYBPC3- and MYH7-Mediated Hypertrophic Cardiomyopathy.

JACC Clinical Electrophysiology
Ikram-Ul Haq, N. Akhiyat, N. Al-Shakarchi, K. Siontis, Siva K Mulpuru, A. Sugrue, J. Giudicessi, Paul A. Friedman, S. Asirvatham, Ammar M. Killu   +9 more
semanticscholar   +1 more source