Case report and literature review of DYNC1H1 gene in Chinese literature

This paper presents an analysis of 15 cases (families) of Dync1h1-related genetic disorders reported in Chinese literature. The study focuses on the clinical manifestations, genetic mutations, and potential mechanisms underlying these diseases. Through a comprehensive review of the cited literature, they aim to provide insights into the spectrum of Dync1h1 gene disorders and their impact on patient health. The analysis highlights the importance of accurate genetic diagnosis in guiding clinical management and genetic counseling for affected individuals and their families.