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Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

1 Mar 2023

Abstract excerpt

OBJECTIVE: To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. METHODS: This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 1985 to October 2020. Molecularly and/or enzymatically confirmed MD...

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PMID: 36859275
DOI: 10.1186/s13023-023-02632-6

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