Frank. Li, et.al., Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy., Human molecular genetics, 2015, 24

http://rdf.ncbi.nlm.nih.gov/pubmed/26123491

Frank. Li, et.al., Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy., Human molecular genetics, 2015, 24

pubmed

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• impaired exercise endurance_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0012106I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• abnormal Z lines_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0004091I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• premature death_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0002083I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• decreased body weight_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0001262I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• increased skeletal muscle fiber number_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0009405I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• abnormal skeletal muscle fiber type ratio_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0009409I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• impaired skeletal muscle contractility_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0002841I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• abnormal sarcomere morphology_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0004090I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• abnormal muscle fiber morphology_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0004087I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• decreased skeletal muscle weight_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0010239I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• decreased quadriceps weight_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0010227I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn
• abnormal skeletal muscle fiber size_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0
  http://metadb.riken.jp/0009398I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn