Cardiomyopathy

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
Luis R Lopes, Anna Zekavati, Petros Syrris, Mike Hubank, Claudia Giambartolomei, Chrysoula Dalageorgou, Sharon Jenkins, William McKenna, Uk10k Consortium Consortium, Vincent Plagnol, Perry M Elliott

Journal of Medical Genetics Apr 2013, 50 (4) 228-239; DOI: 10.1136/jmedgenet-2012-101270
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations
Rita Barresi, Claudia Di Blasi, Tiziana Negri, Raffaella Brugnoni, Andrea Vitali, Giorgio Felisari, Antonio Salandi, Sergio Daniel, Ferdinando Cornelio, Lucia Morandi, Marina Mora

Journal of Medical Genetics Feb 2000, 37 (2) 102-107; DOI: 10.1136/jmg.37.2.102
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
A I Jonckheere, M Hogeveen, L G J Nijtmans, M A M van den Brand, A J M Janssen, J H S Diepstra, F C A van den Brandt, L P van den Heuvel, F A Hol, T G J Hofste, L Kapusta, U Dillmann, M G Shamdeen, J A M Smeitink, R J T Rodenburg

Journal of Medical Genetics Mar 2008, 45 (3) 129-133; DOI: 10.1136/jmg.2007.052084
First description of germline mosaicism in familial hypertrophic cardiomyopathy
Jean-François Forissier, Pascale Richard, Sylvain Briault, Céline Ledeuil, Olivier Dubourg, Bernard Charbonnier, Lucie Carrier, Claude Moraine, Gisèle Bonne, Michel Komajda, Ketty Schwartz, Bernard Hainque

Journal of Medical Genetics Feb 2000, 37 (2) 132-134; DOI: 10.1136/jmg.37.2.132
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome
P Bénit, A Slama, F Cartault, I Giurgea, D Chretien, S Lebon, C Marsac, A Munnich, A Rötig, P Rustin

Journal of Medical Genetics Jan 2004, 41 (1) 14-17; DOI: 10.1136/jmg.2003.014316
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
Christopher J Carroll, Pirjo Isohanni, Rosanna Pöyhönen, Liliya Euro, Uwe Richter, Virginia Brilhante, Alexandra Götz, Taina Lahtinen, Anders Paetau, Helena Pihko, Brendan J Battersby, Henna Tyynismaa, Anu Suomalainen

Journal of Medical Genetics Mar 2013, 50 (3) 151-159; DOI: 10.1136/jmedgenet-2012-101375
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?
R Redon, M Rio, S G Gregory, R A Cooper, H Fiegler, D Sanlaville, R Banerjee, C Scott, P Carr, C Langford, V Cormier-Daire, A Munnich, N P Carter, L Colleaux

Journal of Medical Genetics Feb 2005, 42 (2) 166-171; DOI: 10.1136/jmg.2004.023861
Severe neonatal manifestations of Costello syndrome
I F M Lo, C Brewer, N Shannon, J Shorto, B Tang, G Black, M T Soo, D K K Ng, S T S Lam, B Kerr

Journal of Medical Genetics Mar 2008, 45 (3) 167-171; DOI: 10.1136/jmg.2007.054411
20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits
S R Lalani, J V Thakuria, G F Cox, X Wang, W Bi, M S Bray, C Shaw, S W Cheung, A C Chinault, B A Boggs, Z Ou, E K Brundage, J R Lupski, J Gentile, S Waisbren, A Pursley, L Ma, M Khajavi, G Zapata, R Friedman, J J Kim, J A Towbin, P Stankiewicz, S Schnittger, I Hansmann, T Ai, S Sood, X H Wehrens, J F Martin, J W Belmont, L Potocki

Journal of Medical Genetics Mar 2009, 46 (3) 168-175; DOI: 10.1136/jmg.2008.061002
The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy
Zhong Liu, Yanrui Song, Dan Li, Xiangyu He, Shishi Li, Bifeng Wu, Wei Wang, Shulian Gu, Xiaoyu Zhu, Xuexiang Wang, Qiyin Zhou, Yu Dai, Qingfeng Yan

Journal of Medical Genetics Mar 2014, 51 (3) 176-184; DOI: 10.1136/jmedgenet-2013-101818

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