Researchers from Peking University First Hospital Discuss Research in Duchenne Muscular Dystrophy (Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies).

A recent study conducted by researchers from Peking University First Hospital focused on the clinical and genetic interpretation of uncertain missense variants in Duchenne muscular dystrophy (DMD). The researchers aimed to determine whether these variants would cause abnormal splicing and re-evaluate their pathogenicity based on mRNA and protein studies. The study involved nine patients with elevated serum creatine kinase levels and muscle weakness. Through genetic testing and muscle-derived mRNA and protein studies, the researchers found that three patients had DMD splicing variants and were diagnosed with DMD, while six patients had confirmed DMD missense variants and were diagnosed with Becker muscular dystrophy (BMD). The study emphasizes the importance of muscle biopsy and aberrant splicing in interpreting uncertain DMD missense variants. [Extracted from the article]