A recent case report highlights a spontaneous gene mutation in a patient with nemaline myopathy, revealing the interaction with a paternal genetic variant. This study contributes to the understanding of genetic factors influencing this rare muscle disorder.
spontaneous gene mutation encounters a paternal genetic variant nemaline myopathy a case report and literature review
Original title: “Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.”