Publications by authors named "Tsui-Hang Fung"
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.
KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologic features and genetic studies. The incidence is estimated to be at least 1 in 45 226 livebirths (at least 1 in 41 608 among ethnic Chinese livebirths) in Hong Kong.
View Article and Find Full Text PDFAcute muscle weakness with severe hypokalaemia is not uncommon in adults but is rare in children. An 11-month-old girl presented with hypokalaemic paralysis following a 1-month insufficiency of dietary potassium.
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