Muscle disease

Citations 1-10 of 104 total displayed.

Mutation reports
The unfolding clinical spectrum of POLG mutations

M J Blok, B J van den Bosch, E Jongen, A Hendrickx, C E de Die-Smulders, J E Hoogendijk, E Brusse, M de Visser, B T Poll-The, J Bierau, I F de Coo, H J Smeets
J. Med. Genet. 2009 46: 776 -785; published online before print as 10.1136/jmg.2009.067686 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Original articles
In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1GA mutations in introns of the dystrophin gene

Y Habara, Y Takeshima, H Awano, Y Okizuka, Z Zhang, K Saiki, M Yagi, M Matsuo
J. Med. Genet. 2009 46: 542 -547; published online before print as 10.1136/jmg.2008.061259 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation reports
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

J D Stewart, S Tennant, H Powell, A Pyle, E L Blakely, L He, G Hudson, M Roberts, D du Plessis, D Gow, L D Mewasingh, M G Hanna, S Omer, A A Morris, R Roxburgh, J H Livingston, R McFarland, D M Turnbull, P F Chinnery, R W Taylor
J. Med. Genet. 2009; 46: 209-214. [Abstract] [Full text] [PDF] [Request Permissions]  

Review
Pseudomitochondrial genome haunts disease studies

Y-G Yao, Q-P Kong, A Salas, H-J Bandelt
J. Med. Genet. 2008 45: 769 -772; published online before print as 10.1136/jmg.2008.059782 [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

A Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, A Viola, C Angelini, G Novelli
J. Med. Genet. 2008 45: 639 -646; published online before print as 10.1136/jmg.2008.058909 [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendix ]  

Letter to JMG
Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients

L Davidovic, S Sacconi, E G Bechara, S Delplace, M Allegra, C Desnuelle, B Bardoni
J. Med. Genet. 2008 45: 679 -685; published online before print as 10.1136/jmg.2008.060541 [Abstract] [Full text] [PDF] [Request Permissions]  

Mutation report
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene

S Chabrier, N Monnier, J Lunardi
J. Med. Genet. 2008; 45: 686-688. [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 ]  

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]  

Mutation reports
Isolated cytochrome c oxidase deficiency as a cause of MELAS

W Rossmanith, M Freilinger, J Roka, T Raffelsberger, K Moser-Thier, D Prayer, G Bernert, R E Bittner
J. Med. Genet. 2008; 45: 117-121. [Abstract] [Full text] [PDF] [Request Permissions] [ web only appendices ]