Article
Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.
PloS one - 1 Jan 2020
Kumar Shalini H, Athimoolam Kalpana, Suraj Manikandan, Das Christu Das Mary Shoba, Muralidharan Aparna, Jeyam Divya, Ashokan Jaicy, Karthikeyan Priya, Krishna Ragav, Khanna-Gupta Arati, Bremadesam Raman Lakshmi
Abstract excerpt
Recently DNA sequencing analysis has played a vital role in the unambiguous diagnosis of clinically suspected patients with Duchenne Muscular Dystrophy (DMD). DMD is a monogenic, X-linked, recessive, degenerative pediatric neuromuscular disorder affecting males, invariably leading to fatal cardiopulmonary failure. Early and precise diagnosis of the disease is an essential part of an effective disease management...
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