Cardiovascular medicine

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
Ronen Spiegel, Morad Khayat, Stavit A Shalev, Yoseph Horovitz, Hanna Mandel, Eli Hershkovitz, Flora Barghuti, Avraham Shaag, Ann Saada, Stanley H Korman, Orly Elpeleg, Ido Yatsiv

Journal of Medical Genetics Mar 2011, 48 (3) 177-182; DOI: 10.1136/jmg.2010.084608
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
Homa Tajsharghi, Trond P Leren, Saba Abdul-Hussein, Mar Tulinius, Leif Brunvand, Hilde M Dahl, Anders Oldfors

Journal of Medical Genetics Aug 2010, 47 (8) 575-577; DOI: 10.1136/jmg.2009.072710
Schimke immuno-osseous dysplasia: a clinicopathological correlation
J Marietta Clewing, Barbara C Antalfy, Thomas Lücke, Behzad Najafian, Katja M Marwedel, Akira Hori, Ralph M Powel, A F Safo Do, Lydia Najera, Karen SantaCruz, M John Hicks, Dawna L Armstrong, Corndins F Boerkoel

Journal of Medical Genetics Feb 2007, 44 (2) 122-130; DOI: 10.1136/jmg.2006.044313
A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia
A Cenarro, M Artieda, S Castillo, P Mozas, G Reyes, D Tejedor, R Alonso, P Mata, M Pocoví, F Civeira

Journal of Medical Genetics Mar 2003, 40 (3) 163-168; DOI: 10.1136/jmg.40.3.163
SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family
S Chen, M K Chung, D Martin, R Rozich, P J Tchou, Q Wang

Journal of Medical Genetics Dec 2002, 39 (12) 913-915; DOI: 10.1136/jmg.39.12.913
Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
Albert David, Pierre Bitoun, Didier Lacombe, Jean-Claude Lambert, Annie Nivelon, Jacqueline Vigneron, Alain Verloes

Journal of Medical Genetics Aug 1999, 36 (8) 599-603; DOI: 10.1136/jmg.36.8.599

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