Nebulin and titin expression in Duchenne muscular dystrophy appears normal

FEBS Letters

Nave, Rüdiger³  Weber, Klaus³  Bardosi, Attila¹  Romano, Valentino²  Fürst, Dieter³  Ferro, Mariangela²  Osborn, Mary³  Archidiacono, Nicoletta²  Romeo, Giovanni² 

[1] Department of Neuropathology, University of Göttingen, D34 Göttingen, FRG;Molecular Genetics Laboratory, Institute Giannina-Gaslini, 16148 Genova-Quarto, Italy;Max Planck Institute of Biophysical Chemistry, University of Göttingen, D34 Göttingen, FRG

关键词: Duchenne muscular dystrophy;    Gene deletion;    Nebulin;    Sarcomere structure;    Titin;   

DOI  :  10.1016/0014-5793(87)80420-9

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Monoclonal antibodies which recognize different epitopes on either titin or nebulin show normal staining patterns on frozen sections of three muscle biopsies of Duchenne muscular dystrophy (DMD). Gel electrophoresis and immunoblotting performed on two of these muscle biopsies show the normal pattern of titin and nebulin polypeptides. Since the donor of one of these biopsies has a large deletion of the 5′-region of the DMD gene, our results argue against the recent proposal that nebulin is the gene mutated in DMD.

【 授权许可】

Unknown