Publications by authors named "Yau-On Lam"
Orphanet J Rare Dis
March 2023
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.
