Muscle disease

Missense mutations of ACTA1 cause dominant congenital myopathy with cores
A M Kaindl, F Rüschendorf, S Krause, H-H Goebel, K Koehler, C Becker, D Pongratz, J Müller-Höcker, P Nürnberg, G Stoltenburg-Didinger, H Lochmüller, A Huebner

Journal of Medical Genetics Nov 2004, 41 (11) 842-848; DOI: 10.1136/jmg.2004.020271
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
D Beltrán-Valero de Bernabé, H van Bokhoven, E van Beusekom, W Van den Akker, S Kant, W B Dobyns, B Cormand, S Currier, B Hamel, B Talim, H Topaloglu, H G Brunner

Journal of Medical Genetics Nov 2003, 40 (11) 845-848; DOI: 10.1136/jmg.40.11.845
Desmin splice variants causing cardiac and skeletal myopathy
Kye-Yoon Park, Marinos C Dalakas, Hans H Goebel, Victor J Ferrans, Christina Semino-Mora, Svetlana Litvak, Kazuyo Takeda, Lev G Goldfarb

Journal of Medical Genetics Nov 2000, 37 (11) 851-857; DOI: 10.1136/jmg.37.11.851
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C
J J Shen, C A Brown, J R Lupski, L Potocki

Journal of Medical Genetics Nov 2003, 40 (11) 854-857; DOI: 10.1136/jmg.40.11.854
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son
G Puoti, F Carrara, S Sampaolo, M De Caro, C M Vincitorio, F Invernizzi, M Zeviani

Journal of Medical Genetics Nov 2003, 40 (11) 858-863; DOI: 10.1136/jmg.40.11.858
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency
R Hinttala, R Smeets, J S Moilanen, C Ugalde, J Uusimaa, J A M Smeitink, K Majamaa

Journal of Medical Genetics Nov 2006, 43 (11) 881-886; DOI: 10.1136/jmg.2006.042168
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk, M Janssen, C van den Elzen, D Beltran-Valero de Bernabé, P Sabatelli, L Merlini, M Boon, H Scheffer, M Brockington, F Muntoni, M A Huynen, A Verrips, C A Walsh, P G Barth, H G Brunner, H van Bokhoven

Journal of Medical Genetics Dec 2005, 42 (12) 907-912; DOI: 10.1136/jmg.2005.031963
Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene
Van Khanh Tran, Yasuhiro Takeshima, Zhujun Zhang, Mariko Yagi, Atsushi Nishiyama, Yasuaki Habara, Masafumi Matsuo

Journal of Medical Genetics Dec 2006, 43 (12) 924-930; DOI: 10.1136/jmg.2006.042317
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
E Jakkula, J Lohiniva, A Capone, L Bonafe, M Marti, V Schuster, A Giedion, G Eich, E Boltshauser, L Ala-Kokko, A Superti-Furga

Journal of Medical Genetics Dec 2003, 40 (12) 942-948; DOI: 10.1136/jmg.40.12.942
Attenuation of an amino-terminal premature stop codon mutation in the ATRX gene by an alternative mode of translational initiation
M T Howard, N Malik, C B Anderson, J L A Voskuil, J F Atkins, R J Gibbons

Journal of Medical Genetics Dec 2004, 41 (12) 951-956; DOI: 10.1136/jmg.2004.020248

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