Publications by authors named "Li-Yan Tsung"
Article Synopsis
- The study aimed to assess the prevalence, clinical features, and genetic factors of mitochondrial diseases (MD) in Hong Kong by analyzing data from public hospitals from 1985 to 2020.
- A total of 119 MD patients were reviewed, revealing a prevalence rate of 1.02 cases per 100,000 people, with neurological issues being the most common symptoms and a 37% mortality rate within the cohort.
- The study highlights the predominance of pathogenic variants in the mitochondrial genome and serves as a foundational step towards creating a local MD registry for further research.
Background: Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to investigate the genetic etiology of a cohort of paediatric patients with movement disorders by whole exome sequencing and to review the potential treatment implications after a genetic diagnosis.
Results: We studied a cohort of 31 patients who have paediatric-onset movement disorders with unrevealing etiologies.