Publications:

---

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: L390P

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

---

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: L390P

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

---

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association

van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D

Publication Date: 2019-12-03

Variant appearance in text: MYH7: 1169T>C; Leu390Pro

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993.pdf
• JAH3-8-e012993-s001.pdf

View BVdb publication page

---

The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Yang, Ren-Qiang RQ; Risgaard, Bjarke B; Køber, Lars L; Haunsø, Stig S; Tfelt-Hansen, Jacob J

Publication Date: 2016-03

Variant appearance in text: MYH7: L390P

PubMed Link: 27066506

Variant Present in the following documents:

• MGG3-4-135.pdf
• MGG3-4-135-s001.xlsx, sheet 1

View BVdb publication page

---

Heavy and light roles: myosin in the morphogenesis of the heart.

Cellular And Molecular Life Sciences : Cmls

England, Jennifer J; Loughna, Siobhan S

Publication Date: 2013-04

Variant appearance in text: MYH7: L390P

PubMed Link: 22955375

Variant Present in the following documents:

• Main text
• 18_2012_Article_1131.pdf

View BVdb publication page

---

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Engelen, K K; Postma, A V AV; van de Meerakker, J B A JB; Roos-Hesselink, J W JW; Helderman-van den Enden, A T J M AT; Vliegen, H W HW; Rahman, T T; Baars, M J H MJ; Sels, J-W JW; Bauer, U U; Pickardt, T T; Sperling, S R SR; Moorman, A F M AF; Keavney, B B; Goodship, J J; Klaassen, S S; Mulder, B J M BJ

Publication Date: 2013-03

Variant appearance in text: MYH7: Leu390Pro

PubMed Link: 21604106

Variant Present in the following documents:

• Main text
• 12471_2011_Article_141.pdf

View BVdb publication page

---