Cardiomyopathy

Citations 11-20 of 62 total displayed.

Original articles
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

K M Davey, J S Parboosingh, D R McLeod, A Chan, R Casey, P Ferreira, F F Snyder, P J Bridge, F P Bernier
J. Med. Genet. 2006 43: 385 -393; published online before print as 10.1136/jmg.2005.036657 [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

A Uzumcu, E E Norgett, A Dindar, O Uyguner, K Nisli, H Kayserili, S E Sahin, E Dupont, N J Severs, I M Leigh, M Yuksel-Apak, D P Kelsell, B Wollnik
J. Med. Genet. 2006; 43: e05. [Abstract] [Full text] [PDF] [Request Permissions]  

Electronic letters
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
J. Med. Genet. 2005; 42: e59. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

N Sylvius, Z T Bilinska, J P Veinot, A Fidzianska, P M Bolongo, S Poon, P McKeown, R A Davies, K-L Chan, A S L Tang, S Dyack, J Grzybowski, W Ruzyllo, H McBride, F Tesson
J. Med. Genet. 2005; 42: 639-647. [Abstract] [Full text] [PDF] [Request Permissions] [ Web-only appendix ]  

Letters to JMG
Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus

J Zhang, A Kumar, L Kaplan, F J Fricker, M R Wallace
J. Med. Genet. 2005; 42: 663-665. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

M Bugiani, V Tiranti, L Farina, G Uziel, M Zeviani
J. Med. Genet. 2005; 42: e28. [Abstract] [Full text] [PDF] [Request Permissions] [ Erratum ]  

Electronic letters
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

J Bond, K Flintoff, J Higgins, S Scott, C Bennet, J Parsons, J Mannon, H Jafri, Y Rashid, M Barrow, R Trembath, G Woodruff, E Rossa, S Lynch, J Sheilds, R Newbury-Ecob, A Falconer, P Holland, D Cockburn, G Karbani, S Malik, M Ahmed, E Roberts, G Taylor, C G Woods
J. Med. Genet. 2005; 42: e10. [Extract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
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
J. Med. Genet. 2005; 42: 166-171. [Extract] [Full text] [PDF] [Request Permissions] [ Web-only Figures ]  

Short reports
The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis

L Valenti, D Conte, A Piperno, P Dongiovanni, A L Fracanzani, M Fraquelli, A Vergani, C Gianni, L Carmagnola, S Fargion
J. Med. Genet. 2004; 41: 946-950. [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation reports
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

B Keren, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, O Boute, D Gaillard, D Lacombe, V Layet, S Marlin, G Mortier, A Toutain, C Beylot, C Baumann, A Verloes, H Cavé for the French Collaborative Noonan Study Group
J. Med. Genet. 2004; 41: e117. [Extract] [Full text] [PDF] [Request Permissions]