Please use this identifier to cite or link to this item: http://hdl.handle.net/10603/24867
Full metadata record
DC FieldValueLanguage
dc.coverage.spatialBilogical Scieneen_US
dc.date.accessioned2014-09-10T07:21:32Z-
dc.date.available2014-09-10T07:21:32Z-
dc.date.issued2014-09-10-
dc.identifier.urihttp://hdl.handle.net/10603/24867-
dc.description.abstractThis protein binds the intracellular actin to the extracellular lamellae through the dystroglycans and other transmembrane proteins The dystrophin protein helps in maintaining the cellular integrity of the muscle cell mainly during mechanical stress newlineAlthough a lot of research is being done in this field not much has been achieved in terms of precise diagnosis which forms the base for prevention strategies Moreover precise diagnosis is crucial as many of the therapeutic strategies in pipeline today are based on accurate molecular diagnosis Concerted efforts to understand the number is lacking in our country and the efforts in this study has been focused to reach patient and its family directly We believe this will set a strong base for future research Most of the diagnostic and therapeutic strategies are either incomplete or too expensive to reach the patients and to alleviate the pain that the families undergo The DMD gene was one of the early genes to be identified to cause a disease in the humans but since then much has not been achieved owing to the size of the gene 79 exons and the several isoforms that alter the clinical presentation Moreover lack of complete knowledge on the functions of the dystrophin protein overlapping pathophysiology of the disorder with several other similar muscular disorders in clinical symptoms and the overlapping functions of the muscular dystrophy proteins have also contributed to the complexity of handling the disorder However with no therapies immediately available in the market and the dependency of the upcoming therapies on the mutation on the DMD gene the aim of our study is to accurately identify the DMD gene mutations in patients affected by Duchenne and Becker muscular dystrophy newlineen_US
dc.format.extent-en_US
dc.languageEnglishen_US
dc.relation-en_US
dc.rightsuniversityen_US
dc.titleGenetic diagnosis prevention and molecular pathophysiology of duchenne muscular dystrophy and non invasive diagnosis of familial neuromuscular disordersen_US
dc.title.alternative-en_US
dc.creator.researcherSakthivel, Murugan S Men_US
dc.subject.keywordDuchenne Muscular Dystrophyen_US
dc.subject.keywordGenetic Diagnosis Preventionen_US
dc.subject.keywordMolecular Pathophysiologyen_US
dc.subject.keywordNeuromuscular Disordersen_US
dc.description.note-en_US
dc.contributor.guideLaxshmi, B Ren_US
dc.publisher.placePilanien_US
dc.publisher.universityBirla Institute of Technology and Scienceen_US
dc.publisher.institutionBilogical Scieneen_US
dc.date.registered1-8-2007en_US
dc.date.completed20-7-2013en_US
dc.date.awarded20-8-2013en_US
dc.format.dimensions-en_US
dc.format.accompanyingmaterialDVDen_US
dc.source.universityUniversityen_US
dc.type.degreePh.D.en_US
Appears in Departments:Biological Science

Files in This Item:
File Description SizeFormat 
complete thesis_13.05.13.pdfAttached File7.36 MBAdobe PDFView/Open


Items in Shodhganga are licensed under Creative Commons Licence Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0).

Altmetric Badge: