Abstract:
:The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy (D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD) patients to have out-framed deletions and Becker's muscular dystrophy (BMD) patients to have in-frame deletions of dystrophin gene holds well in the vast majority of cases. Mutation detection is obviously critical for diagnosis but it may also be important for future therapeutic purposes. These factors underscore the need for earlier referral, genetic counseling and provision of support and rehabilitation services which are the main priorities for psychosocial assessment and intervention at medical and social levels.
journal_name
Neurol Indiajournal_title
Neurology Indiaauthors
Nadkarni JJ,Dastur RS,Viswanathan V,Gaitonde PS,Khadilkar SVdoi
10.4103/0028-3886.43442subject
Has Abstractpub_date
2008-07-01 00:00:00pages
248-53issue
3eissn
0028-3886issn
1998-4022journal_volume
56pub_type
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