Muscle disease

Citations 11-20 of 104 total displayed.

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
Episodic ataxia and hemiplegia caused by the 8993TC mitochondrial DNA mutation

K Craig, H R Elliott, S M Keers, C Lambert, A Pyle, T D Graves, C Woodward, M G Sweeney, M B Davis, M G Hanna, P F Chinnery
J. Med. Genet. 2007; 44: 797-799. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A

M Fanin, L Nardetto, A C Nascimbeni, E Tasca, M Spinazzi, R Padoan, C Angelini
J. Med. Genet. 2007 44: 609 -614; published online before print as 10.1136/jmg.2007.050328 [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 ]  

Original articles
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

Peter J Taylor, Sarah Maroulis, Glenda L Mullan, Robyn L Pedersen, Aurora Baumli, George Elakis, Sara Piras, Corrina Walsh, Benito Prósper-Gutiérrez, Fernando De La Puente-Alonso, Christopher G Bell, David R Mowat, Heather M Johnston, Michael F Buckley
J. Med. Genet. 2007 44: 368 -372; published online before print as 10.1136/jmg.2006.047464 [Abstract] [Full text] [PDF] [Request Permissions] [ web only tables ]  

Online mutation report
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, H J Smeets
J. Med. Genet. 2007; 44: e74. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Erika Fernandez-Vizarra, Angela Berardinelli, Lucia Valente, Valeria Tiranti, Massimo Zeviani
J. Med. Genet. 2007 44: 173 -180; published online before print as 10.1136/jmg.2006.045252 [Abstract] [Full text] [PDF] [Request Permissions]  

Letters to JMG
A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere

N S T Thomas, K Wiseman, G Spurlock, M MacDonald, D Üstek, M Upadhyaya
J. Med. Genet. 2007 44: 215 -218; published online before print as 10.1136/jmg.2006.042804 [Abstract] [Full text] [PDF] [Request Permissions]  

Online mutation report
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres

Daniela Rossi, Patrick De Smet, Alla Lyfenko, Lucia Galli, Stefania Lorenzini, Daniela Franci, Francesco Petrioli, Alfredo Orrico, Corrado Angelini, Vincenzo Tegazzin, Robert Dirksen, Vincenzo Sorrentino
J. Med. Genet. 2007; 44: e67. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations

M Fanin, A C Nascimbeni, C Angelini
J. Med. Genet. 2007 44: 38 -43; published online before print as 10.1136/jmg.2006.044859 [Abstract] [Full text] [PDF] [Request Permissions]