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Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report
Personal take on this article: This paper describes the diagnosis of Duchenne Muscular Dystrophy (DMD) in a presymptomatic infant using Next-Generation Sequencing (NGS) and Chromosomal Microarray Analysis (CMA). DMD is a progressive X-linked recessive disease caused by mutations in the dystrophin gene, leading to muscle weakness. Early diagnosis is crucial for starting treatments before significant muscle damage occurs, but DMD often faces diagnostic delays. In this case, a four-month-old infant …
