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Characterization of recessive RYR1 mutations in core myopathies.

Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006 Sep 15; 15(18):2791-803.

View in: PubMed

subject areas
  • Amino Acid Substitution
  • Base Sequence
  • Calcium
  • Cell Line
  • DNA, Complementary
  • Female
  • Genes, Recessive
  • Humans
  • In Vitro Techniques
  • Male
  • Membrane Potentials
  • Muscle, Skeletal
  • MyoD Protein
  • Myopathy, Central Core
  • Pedigree
  • Phenotype
  • Recombinant Proteins
  • Ryanodine Receptor Calcium Release Channel
  • Transduction, Genetic

authors with profiles
  • Naohiro Yamaguchi