Abstract：
:The protein product of the human Duchenne muscular dystrophy locus (DMD) and its mouse homolog (mDMD) have been identified by using polyclonal antibodies directed against fusion proteins containing two distinct regions of the mDMD cDNA. The DMD protein is shown to be approximately 400 kd and to represent approximately 0.002% of total striated muscle protein. This protein is also detected in smooth muscle (stomach). Muscle tissue isolated from both DMD-affected boys and mdx mice contained no detectable DMD protein, suggesting that these genetic disorders are homologous. Since mdx mice present no obvious clinical abnormalities, the identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype. We have named the protein dystrophin because of its identification via the isolation of the Duchenne muscular dystrophy locus.
journal_name
Celljournal_title
Cellauthors
Hoffman EP,Brown RH Jr,Kunkel LMdoi
10.1016/0092-8674(87)90579-4subject
Has Abstractpub_date
1987-12-24 00:00:00pages
919-28issue
6eissn
0092-8674issn
1097-4172pii
0092-8674(87)90579-4journal_volume
51pub_type
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