Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

The identification of novel variants in the Duchenne muscular dystrophy gene, alongside the absence of pathogenic mutations in other genes investigated by the neuromuscular panel, strongly suggests an X-linked dystrophinopathy diagnosis in our patient. This case highlights the need for continued exploration of dystrophinopathies' genetic variants. Further studies are required to elucidate the functional impact of these novel variants and to improve our understanding of the genotypic and phenotypic variability observed in these disorders, which may lead to a revolution in treatment approaches and potentially offer curative options for patients.