Muscle disease

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes
A B Csoka, H Cao, P J Sammak, D Constantinescu, G P Schatten, R A Hegele

Journal of Medical Genetics Apr 2004, 41 (4) 304-308; DOI: 10.1136/jmg.2003.015651
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene
S Shepherd, F Ellis, J Halsall, P Hopkins, R Robinson

Journal of Medical Genetics Mar 2004, 41 (3) e33; DOI: 10.1136/jmg.2003.014274
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
C Goizet, R Ben Yaou, L Demay, P Richard, S Bouillot, M Rouanet, E Hermosilla, G Le Masson, A Lagueny, G Bonne, X Ferrer

Journal of Medical Genetics Mar 2004, 41 (3) e29; DOI: 10.1136/jmg.2003.013383
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
L De Meirleir, S Seneca, W Lissens, I De Clercq, F Eyskens, E Gerlo, J Smet, R Van Coster

Journal of Medical Genetics Feb 2004, 41 (2) 120-124; DOI: 10.1136/jmg.2003.012047
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation
K Szigeti, L-J C Wong, C-L Perng, G M Saifi, K Eldin, A M Adesina, D L Cass, M Hirano, J R Lupski, F Scaglia

Journal of Medical Genetics Feb 2004, 41 (2) 125-129; DOI: 10.1136/jmg.2003.013789
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype
M M O Tonini, R C M Pavanello, J Gurgel-Giannetti, R J Lemmers, S M van der Maarel, R R Frants, M Zatz

Journal of Medical Genetics Feb 2004, 41 (2) e17; DOI: 10.1136/jmg.2003.010637
Mitochondrial DNA deletion in “identical” twin brothers
E L Blakely, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, D M Turnbull

Journal of Medical Genetics Feb 2004, 41 (2) e19; DOI: 10.1136/jmg.2003.011296
Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy
Y P Bao, S Sarkar, E Uyama, D C Rubinsztein

Journal of Medical Genetics Jan 2004, 41 (1) 47-51; DOI: 10.1136/jmg.2003.014548
Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A
K Goto, I Nishino, Y K Hayashi

Journal of Medical Genetics Jan 2004, 41 (1) e12; DOI: 10.1136/jmg.2003.008755
Induction of instability of normal length trinucleotide repeats within human disease genes
L Fernàndez-López, E Piñeiro, R Marcos, A Velázquez, J Surrallés

Journal of Medical Genetics Jan 2004, 41 (1) e3; DOI: 10.1136/jmg.2003.010298

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