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Year : 1998 | Volume
: 46
| Issue : 4 | Page : 256--260 |
Molecular diagnosis of DMD/BMD.
A Anand, S Prabhakar, D Kaul
Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012, India
Correspondence Address:
A Anand Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012 India
 Source of Support: None, Conflict of Interest: None  | Check |
PMID: 29508816 
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X- linked recessive disorders with the former following a severe and fatal course and the latter a milder clinical profile. Accurate diagnosis of these disorders, therefore, becomes crucial for patient counselling and management. A number of molecular diagnostic criteria for DMD/BMD have evolved with the growth of molecular biology. These include multiplex PCR, southern blot analysis, denaturing gradient-gel electrophoresis, western blot analysis, immunocytochemistry, CA repeat analysis, entangled solution capillary electrophoresis, heteroduplex analysis, single strand conformation electrophoresis and direct sequencing. RNA finger-printing has the potential to lead the present day molecular diagnostics of muscular dystrophies to a new dimension hitherto unexplored.
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