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Year : 1998  |  Volume : 46  |  Issue : 4  |  Page : 256--260

Molecular diagnosis of DMD/BMD.


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
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Source of Support: None, Conflict of Interest: None


PMID: 29508816

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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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Online since 20th March '04
Published by Wolters Kluwer - Medknow