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  • Brage S Andresen, Péter Bross, +16 authors Niels Gregersen
  • Biology, Medicine
  • Human molecular genetics
  • 1 May 1997
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of mitochondrial beta-oxidation. It is potentially fatal, but shows a wide clinical spectrum. The aim ofContinue Reading
  • Pascale Guicheney, Nicolas Vignier, +17 authors K. Tryggvason
  • Biology, Medicine
  • Journal of medical genetics
  • 1 March 1998
  • Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons wasContinue Reading
  • Michel Gustave Jules Fardeau, Jean Paul Harpey, B Caille
  • Medicine
  • Revue neurologique
  • 1 November 1975
  • In two sisters with a neo-natal hypotonia, muscle biopsies demonstrated as main pathological feature a disproportion in size between the two types of muscle fibers defined according to theirContinue Reading