Muscle disease

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

Journal of Medical Genetics Feb 2007, 44 (2) e67; DOI: 10.1136/jmg.2006.043794
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation
Angela Pyle, Robert W Taylor, Steve E Durham, Marcus Deschauer, Andrew M Schaefer, David C Samuels, Patrick F Chinnery

Journal of Medical Genetics Jan 2007, 44 (1) 69-74; DOI: 10.1136/jmg.2006.043109
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
M Fanin, A C Nascimbeni, C Angelini

Journal of Medical Genetics Jan 2007, 44 (1) 38-43; DOI: 10.1136/jmg.2006.044859
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
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
Polyalanine and polyserine frameshift products in Huntington’s disease
J E Davies, D C Rubinsztein

Journal of Medical Genetics Nov 2006, 43 (11) 893-896; DOI: 10.1136/jmg.2006.044222
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development
C Bouchet, J Steffann, J Corcos, S Monnot, V Paquis, A Rötig, S Lebon, P Levy, G Royer, I Giurgea, N Gigarel, A Benachi, Y Dumez, A Munnich, J P Bonnefont

Journal of Medical Genetics Oct 2006, 43 (10) 788-792; DOI: 10.1136/jmg.2005.034140
A novel mutation in the mitochondrial tRNA^Ser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency
L-J C Wong, D Yim, R-K Bai, H Kwon, M M Vacek, J Zane, C L Hoppel, D S Kerr

Journal of Medical Genetics Sep 2006, 43 (9) e46; DOI: 10.1136/jmg.2005.040626
The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype
M L Valentino, P Barboni, C Rengo, A Achilli, A Torroni, R Lodi, C Tonon, B Barbiroli, F Fortuna, P Montagna, A Baruzzi, V Carelli

Journal of Medical Genetics Jul 2006, 43 (7) e38; DOI: 10.1136/jmg.2005.037507
Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation
D O Robinson, A J Wills, S R Hammans, S P Read, J Sillibourne

Journal of Medical Genetics May 2006, 43 (5) e23; DOI: 10.1136/jmg.2005.037598

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