Cardiomyopathy

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Robin H Lachmann, Roberta Lemay, Gabor E Linthorst, Seymour Packman, C Ronald Scott, Stephen Waldek, David G Warnock, Neal J Weinreb, William R Wilcox

Journal of Medical Genetics May 2015, 52 (5) 353-358; DOI: 10.1136/jmedgenet-2014-102797
The twisting tale of woolly hair: a trait with many causes
Yuval Ramot, Abraham Zlotogorski

Journal of Medical Genetics Apr 2015, 52 (4) 217-223; DOI: 10.1136/jmedgenet-2014-102630
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
A H Christensen, M Benn, H Bundgaard, A Tybjærg-Hansen, S Haunso, J H Svendsen

Journal of Medical Genetics Nov 2010, 47 (11) 736-744; DOI: 10.1136/jmg.2010.077891
Genetic determinants of myocardial dysfunction
Xianchi Li, Peiying Zhang

Journal of Medical Genetics Jan 2017, 54 (1) 1-10; DOI: 10.1136/jmedgenet-2016-104308
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
J Ingles, A Doolan, C Chiu, J Seidman, C Seidman, C Semsarian

Journal of Medical Genetics Oct 2005, 42 (10) e59; DOI: 10.1136/jmg.2005.033886
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy
Elisa Fassone, Jan-Willem Taanman, Iain P Hargreaves, Neil J Sebire, Maureen A Cleary, Michael Burch, Shamima Rahman

Journal of Medical Genetics Oct 2011, 48 (10) 691-697; DOI: 10.1136/jmedgenet-2011-100340
Complex I deficiency: clinical features, biochemistry and molecular genetics
Elisa Fassone, Shamima Rahman

Journal of Medical Genetics Sep 2012, 49 (9) 578-590; DOI: 10.1136/jmedgenet-2012-101159
A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life
Chiara Calore, Marzia De Bortoli, Chiara Romualdi, Alessandra Lorenzon, Annalisa Angelini, Cristina Basso, Gaetano Thiene, Sabino Iliceto, Alessandra Rampazzo, Paola Melacini

Journal of Medical Genetics May 2015, 52 (5) 338-347; DOI: 10.1136/jmedgenet-2014-102923
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics
Olaf R F Mook, Martin A Haagmans, Jean-François Soucy, Judith B A van de Meerakker, Frank Baas, Marja E Jakobs, Nynke Hofman, Imke Christiaans, Ronald H Lekanne Deprez, Marcel M A M Mannens

Journal of Medical Genetics Sep 2013, 50 (9) 614-626; DOI: 10.1136/jmedgenet-2012-101231
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor

Journal of Medical Genetics Sep 2012, 49 (9) 569-577; DOI: 10.1136/jmedgenet-2012-101146

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