Muscle disease

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Michaela Jaksch, Stephanie Kleinle, Curt Scharfe, Thomas Klopstock, Dieter Pongratz, Josef Müller-Höcker, Klaus-D Gerbitz, Sabina Liechti-Gallati, Hanns Lochmuller, Rita Horvath

Journal of Medical Genetics Oct 2001, 38 (10) 665-673; DOI: 10.1136/jmg.38.10.665
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

Journal of Medical Genetics Oct 2008, 45 (10) 679-685; DOI: 10.1136/jmg.2008.060541
Evidence based medicine in practice: lessons from a Scottish clinical genetics project
Harry Campbell, Nicola Bradshaw, Rosemary Davidson, John Dean, David Goudie, Susan Holloway, Mary Porteous

Journal of Medical Genetics Sep 2000, 37 (9) 684-691; DOI: 10.1136/jmg.37.9.684
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
G Piluso, L Politano, S Aurino, M Fanin, E Ricci, V M Ventriglia, A Belsito, A Totaro, V Saccone, H Topaloglu, A C Nascimbeni, L Fulizio, A Broccolini, N Canki-Klain, L I Comi, G Nigro, C Angelini, V Nigro

Journal of Medical Genetics Sep 2005, 42 (9) 686-693; DOI: 10.1136/jmg.2004.028738
Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene
S Chabrier, N Monnier, J Lunardi

Journal of Medical Genetics Oct 2008, 45 (10) 686-688; DOI: 10.1136/jmg.2008.059766
Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease
C Spits, S Seneca, P Hilven, I Liebaers, K Sermon

Journal of Medical Genetics Oct 2010, 47 (10) 700-703; DOI: 10.1136/jmg.2009.074211
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform
Byung Chan Lim, Seungbok Lee, Jong-Yeon Shin, Jong-Il Kim, Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Jeong-Sun Seo, Jong Hee Chae

Journal of Medical Genetics Nov 2011, 48 (11) 731-736; DOI: 10.1136/jmedgenet-2011-100133
FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease
K Tsumagari, D Chen, J R Hackman, A D Bossler, M Ehrlich

Journal of Medical Genetics Nov 2010, 47 (11) 745-751; DOI: 10.1136/jmg.2009.076703
A tRNA^Ala mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy
R Horváth, H Lochmüller, C Scharfe, B H Do, P J Oefner, J Müller-Höcker, B G Schoser, D Pongratz, D P Auer, M Jaksch

Journal of Medical Genetics Oct 2003, 40 (10) 752-757; DOI: 10.1136/jmg.40.10.752
Pseudomitochondrial genome haunts disease studies
Y-G Yao, Q-P Kong, A Salas, H-J Bandelt

Journal of Medical Genetics Dec 2008, 45 (12) 769-772; DOI: 10.1136/jmg.2008.059782

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