先天性筋ジストロフィー研究の進歩

• 埜中 征哉

  国立精神・神経センター武蔵病院

書誌事項

タイトル別名

• Recent Advances in Congenital Muscular Dystrophy Research

抄録

Congenital muscular dystrophy (CMD) is a group of heterogeneous disorders characterized clinically by delayed milestones due to generalized muscle weakness and dystrophic muscle pathology. The discovery of fukutin, responsible gene for Fukuyama CMD (FCMD) and defective glycosylation in its muscle biopsy has lead significant advances in CMD researches, especially disorders with glycosylation defects to α dystroglycan (α DG). The highly glycosylated α DG is one of the major dystrophin-associated proteins anchored a basement membrane protein, laminin 2 to the dystrophin molecule. The disorders with the defective glycosylation are now categorized as α dystroglycanopathies which include FCMD, muscle-eye-brain (MEB) disease, Walker-Warburg syndrome (WWS) and diseases with mutations in fukutin-related protein (FKRP) and LARGE genes. Among them, MEB and WWS were proven to have mutations in the glycosyltransferase genes, POMGnT1 (protein O-mannose β 1, 2-Nacetylglucosaminyl/transferase 1) and POMT1 (protein O-mannosyltransferase 1), respectively, though others are still unknown how the glycosylation defect is induced. Although the disease with FKRP mutation has variable phenotypes from CMD to limb-girdle muscular dystrophy, others with defective to decreased α DG show CMD, central nervous system involvement with migration disorder (polymicrogyria) and ocular abnormalities.

収録刊行物

• 脳と発達

  脳と発達 37 (2), 115-121, 2005

  THE JAPANESE SOCIETY OF CHILD NEUROLOGY

キーワード

• 先天性筋ジストロフィー
• αジストログリカン
• 糖鎖修飾
• II型滑脳症

詳細情報

• CRID: 1390282679529742080
• NII論文ID: 130004068293
• NII論文ID: 10015682652
• NII書誌ID: AN0020232X
• DOI: 10.11251/ojjscn1969.37.115
• ISSN: 18847668
• ISSN: 00290831
• PubMed: 15773323
• Web Site: https://search.jamas.or.jp/link/ui/2005122284
• 本文言語コード: ja
• データソース種別:
  • JaLC
  • PubMed
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可