Motoi. Kanagawa, et.al., Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy., PloS one, 2014, 9

http://rdf.ncbi.nlm.nih.gov/pubmed/25198651

Motoi. Kanagawa, et.al., Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy., PloS one, 2014, 9

pubmed

表現型アノテーション

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

• centrally nucleated skeletal muscle fibers_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0009404IC57BL6SJLJDysfimDysfLarge1mydLarge1mydDysfimLarge1mydDysf
• skeletal muscle fiber necrosis_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0009414IC57BL6SJLJDysfimDysfLarge1mydLarge1mydDysfimLarge1mydDysf
• myositis_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0004510IC57BL6SJLJDysfimDysfLarge1mydLarge1mydDysfimLarge1mydDysf
• abnormal skeletal muscle fiber morphology_Dysf<im>/Dysf<im>,Fktn<tm2(FCMD)Ttd>/Fktn<+>
  http://metadb.riken.jp/0003084IC57BL6SJLJDysfimDysfimFktntm2FCMDTtdFktnFktntm2FCMDTtdFktnDysfim
• skeletal muscle fibrosis_Dysf<im>/Dysf<im>,Fktn<tm1Ttd>/Fktn<tm2(FCMD)Ttd>
  http://metadb.riken.jp/0009419I129S7SvEvBrdC57BL6SJLJDysfimDysfimFktntm1TtdFktntm2FCMDTtdDysfimFktntm1TtdFktntm2FCMDTtd
• centrally nucleated skeletal muscle fibers_Dysf<im>/Dysf<im>,Fktn<tm2(FCMD)Ttd>/Fktn<+>
  http://metadb.riken.jp/0009404IC57BL6SJLJDysfimDysfimFktntm2FCMDTtdFktnFktntm2FCMDTtdFktnDysfim
• dystrophic muscle_Dysf<im>/Dysf<im>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0000752IC57BL6SJLJDysfimDysfimLarge1mydLarge1mydDysfimLarge1myd
• increased variability of skeletal muscle fiber size_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0009403IC57BL6SJLJDysfimDysfLarge1mydLarge1mydDysfimLarge1mydDysf
• skeletal muscle fiber degeneration_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0009412IC57BL6SJLJDysfimDysfLarge1mydLarge1mydDysfimLarge1mydDysf
• myositis_Dysf<im>/Dysf<im>,Fktn<tm1Ttd>/Fktn<tm2(FCMD)Ttd>
  http://metadb.riken.jp/0004510I129S7SvEvBrdC57BL6SJLJDysfimDysfimFktntm1TtdFktntm2FCMDTtdDysfimFktntm1TtdFktntm2FCMDTtd
• abnormal skeletal muscle fiber morphology_Dysf<im>/Dysf<im>,Fktn<tm1Ttd>/Fktn<tm2(FCMD)Ttd>
  http://metadb.riken.jp/0003084I129S7SvEvBrdC57BL6SJLJDysfimDysfimFktntm1TtdFktntm2FCMDTtdDysfimFktntm1TtdFktntm2FCMDTtd
• abnormal skeletal muscle fiber morphology_Dysf<im>/Dysf<im>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0003084IC57BL6SJLJDysfimDysfimLarge1mydLarge1mydDysfimLarge1myd
• dystrophic muscle_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0000752IC57BL6SJLJDysfimDysfLarge1mydLarge1mydDysfimLarge1mydDysf
• abnormal skeletal muscle fiber morphology_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0003084IC57BL6SJLJDysfimDysfLarge1mydLarge1mydDysfimLarge1mydDysf
• dystrophic muscle_Dysf<im>/Dysf<im>,Fktn<tm2(FCMD)Ttd>/Fktn<+>
  http://metadb.riken.jp/0000752IC57BL6SJLJDysfimDysfimFktntm2FCMDTtdFktnFktntm2FCMDTtdFktnDysfim
• skeletal muscle fiber degeneration_Dysf<im>/Dysf<im>,Fktn<tm1Ttd>/Fktn<tm2(FCMD)Ttd>
  http://metadb.riken.jp/0009412I129S7SvEvBrdC57BL6SJLJDysfimDysfimFktntm1TtdFktntm2FCMDTtdDysfimFktntm1TtdFktntm2FCMDTtd
• increased variability of skeletal muscle fiber size_Dysf<im>/Dysf<im>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0009403IC57BL6SJLJDysfimDysfimLarge1mydLarge1mydDysfimLarge1myd
• skeletal muscle fiber necrosis_Dysf<im>/Dysf<im>,Fktn<tm2(FCMD)Ttd>/Fktn<+>
  http://metadb.riken.jp/0009414IC57BL6SJLJDysfimDysfimFktntm2FCMDTtdFktnFktntm2FCMDTtdFktnDysfim
• abnormal skeletal muscle morphology_Dysf<im>/Dysf<im>,Fktn<tm1Ttd>/Fktn<tm2(FCMD)Ttd>
  http://metadb.riken.jp/0000759I129S7SvEvBrdC57BL6SJLJDysfimDysfimFktntm1TtdFktntm2FCMDTtdDysfimFktntm1TtdFktntm2FCMDTtd
• myositis_Dysf<im>/Dysf<im>,Large1<myd>/Large1<myd>
  http://metadb.riken.jp/0004510IC57BL6SJLJDysfimDysfimLarge1mydLarge1mydDysfimLarge1myd
• dystrophic muscle_Dysf<im>/Dysf<im>,Fktn<tm1Ttd>/Fktn<tm2(FCMD)Ttd>
  http://metadb.riken.jp/0000752I129S7SvEvBrdC57BL6SJLJDysfimDysfimFktntm1TtdFktntm2FCMDTtdDysfimFktntm1TtdFktntm2FCMDTtd
• centrally nucleated skeletal muscle fibers_Dysf<im>/Dysf<im>,Fktn<tm1Ttd>/Fktn<tm2(FCMD)Ttd>
  http://metadb.riken.jp/0009404I129S7SvEvBrdC57BL6SJLJDysfimDysfimFktntm1TtdFktntm2FCMDTtdDysfimFktntm1TtdFktntm2FCMDTtd