Cardiomyopathy

Citations 1-10 of 62 total displayed.

Original articles
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

S M Ware, N El-Hassan, S G Kahler, Q Zhang, Y-W, E Miller, B Wong, R L Spicer, W J Craigen, B A Kozel, D K Grange, L-J Wong
J. Med. Genet. 2009 46: 308 -314; published online before print as 10.1136/jmg.2008.063149 [Abstract] [Full text] [PDF] [Request Permissions] [ Web only appendix ]  

Original articles
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
J. Med. Genet. 2009 46: 168 -175; published online before print as 10.1136/jmg.2008.061002 [Abstract] [Full text] [PDF] [Request Permissions] [ web only statement ] [ web only appendices ]  

Letter to JMG
Heart–hand syndrome of Slovenian type: a new kind of laminopathy

L Renou, S Stora, R Ben Yaou, M Volk, M Sinkovec, L Demay, P Richard, B Peterlin, G Bonne
J. Med. Genet. 2008 45: 666 -671; published online before print as 10.1136/jmg.2008.060020 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNA^Leu mutation

R G E van Eijsden, L M T Eijssen, P J Lindsey, C M M van den Burg, L E A de Wit, M E Rubio-Gozalbo, C E M de Die, T Ayoubi, W Sluiter, I F M de Coo, H J M Smeets
J. Med. Genet. 2008 45: 525 -534; published online before print as 10.1136/jmg.2008.057497 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations

C M Armour, J E Allanson
J. Med. Genet. 2008 45: 249 -254; published online before print as 10.1136/jmg.2007.054460 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
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
J. Med. Genet. 2008 45: 129 -133; published online before print as 10.1136/jmg.2007.052084 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2008 45: 167 -171; published online before print as 10.1136/jmg.2007.054411 [Abstract] [Full text] [PDF] [Request Permissions]  

Short report
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

A Saada, A Shaag, S Arnon, T Dolfin, C Miller, D Fuchs-Telem, A Lombes, O Elpeleg
J. Med. Genet. 2007 44: 784 -786; published online before print as 10.1136/jmg.2007.053116 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

Ineke van der Burgt, William Kupsky, Stephani Stassou, Ali Nadroo, Cândida Barroso, Angelika Diem, Christian P Kratz, Radovan Dvorsky, Mohammad Reza Ahmadian, Martin Zenker
J. Med. Genet. 2007 44: 459 -462; published online before print as 10.1136/jmg.2007.049270 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letters to JMG
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

R H Lekanne Deprez, J J Muurling-Vlietman, J Hruda, M J H Baars, L C D Wijnaendts, I Stolte-Dijkstra, M Alders, J M van Hagen
J. Med. Genet. 2006 43: 829 -832; published online before print as 10.1136/jmg.2005.040329 [Abstract] [Full text] [PDF] [Request Permissions]