Table of contents

Electronic letters

• Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia

  (1 June, 2004)

  R Giorda, A Cerritello, M C Bonaglia, S Bova, G Lanzi, E Repetti, S Giglio, C Baschirotto, T Pramparo, L Avolio, R Bragheri, P Maraschio, O Zuffardi
• Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption (1 June, 2004)

  P Lastella, N Resta, I Miccolis, A Quagliarella, G Guanti, A Stella
• A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome (1 June, 2004)

  M Mancuso, C Vives-Bauza, M Filosto, R Marti, A Solano, J Montoya, J Gamez, S DiMauro, A L Andreu
• Haplotype analysis of human AMPD1 gene: origin of common mutant allele

  (1 June, 2004)

  K Toyama, H Morisaki, Y Kitamura, M Gross, T Tamura, Y Nakahori, J M Vance, M Speer, N Kamatani, T Morisaki
• Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene (1 June, 2004)

  R Horváth, H Lochmüller, M Hoeltzenbein, J Müller-Höcker, B G Schoser, D Pongratz, M Jaksch
• Genetic influences on the circulating cytokines involved in osteoclastogenesis (1 June, 2004)

  G Livshits, I Pantsulaia, S Trofimov, E Kobyliansky
• A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation (1 June, 2004)

  D Genevieve, C Baumann, C Huber, L Faivre, D Sanlaville, C Bodemer, S Hadj-Rabia, A Assoumou, A Verloes, F Raqbi, A Munnich, V Cormier-Daire
• Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations (1 June, 2004)

  M Holder-Espinasse, F Escande, E Mayrargue, A Dieux-Coeslier, D Fron, A Doual-Bisser, O Boute-Benejean, Y Robert, N Porchet, S Manouvrier-Hanu
• Evidence of differing genotypic effects of PPARα in women and men (1 June, 2004)

  Q H Khan, D E Pontefract, S Iyengar, S Ye
• Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family (1 June, 2004)

  Q J Wang, C Y Lu, N Li, S Q Rao, Y B Shi, D Y Han, X Li, J Y Cao, L M Yu, Q Z Li, M X Guan, W Y Yang, Y Shen