Publications:

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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: TTN: W34072R

PubMed Link: 34819141

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: TTN: W34072R

PubMed Link: 34819141

Variant Present in the following documents:

• Main text

View BVdb publication page

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Making sense of missense variants in TTN-related congenital myopathies.

Acta Neuropathologica

Rees, Martin M; Nikoopour, Roksana R; Fukuzawa, Atsushi A; Kho, Ay Lin AL; Fernandez-Garcia, Miguel A MA; Wraige, Elizabeth E; Bodi, Istvan I; Deshpande, Charu C; Özdemir, Özkan Ö; Daimagüler, Hülya-Sevcan HS; Pfuhl, Mark M; Holt, Mark M; Brandmeier, Birgit B; Grover, Sarah S; Fluss, Joël J; Longman, Cheryl C; Farrugia, Maria Elena ME; Matthews, Emma E; Hanna, Michael M; Muntoni, Francesco F; Sarkozy, Anna A; Phadke, Rahul R; Quinlivan, Ros R; Oates, Emily C EC; Schröder, Rolf R; Thiel, Christian C; Reimann, Jens J; Voermans, Nicol N; Erasmus, Corrie C; Kamsteeg, Erik-Jan EJ; Konersman, Chaminda C; Grosmann, Carla C; McKee, Shane S; Tirupathi, Sandya S; Moore, Steven A SA; Wilichowski, Ekkehard E; Hobbiebrunken, Elke E; Dekomien, Gabriele G; Richard, Isabelle I; Van den Bergh, Peter P; Domínguez-González, Cristina C; Cirak, Sebahattin S; Ferreiro, Ana A; Jungbluth, Heinz H; Gautel, Mathias M

Publication Date: 2021-03

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 33449170

Variant Present in the following documents:

• Main text
• 401_2020_Article_2257.pdf

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Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Frontiers In Physiology

Desai, Darshini D; Stiene, Danielle D; Song, Taejeong T; Sadayappan, Sakthivel S

Publication Date: 2020

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 32670090

Variant Present in the following documents:

• Main text
• fphys-11-00689.pdf

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Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Journal Of Neuromuscular Diseases

Savarese, Marco M; Välipakka, Salla S; Johari, Mridul M; Hackman, Peter P; Udd, Bjarne B

Publication Date: 2020

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 32176652

Variant Present in the following documents:

• Main text
• jnd-7-jnd190459.pdf

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Advanced Evolution of Pathogenesis Concepts in Cardiomyopathies.

Journal Of Clinical Medicine

Li, Chia-Jung CJ; Chen, Chien-Sheng CS; Yiang, Giou-Teng GT; Tsai, Andy Po-Yi AP; Liao, Wan-Ting WT; Wu, Meng-Yu MY

Publication Date: 2019-04-16

Variant appearance in text: TTN: Trp34072Arg

PubMed Link: 30995779

Variant Present in the following documents:

• Main text
• jcm-08-00520.pdf

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