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

ABSTRACT:

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 cases of any age were recruited via the Clinical Analysis and Reporting System (CDARS) using relevant keywords and/or International Classification of Disease (ICD) codes under the HK Hospital Authority or through the personal recollection of treating clinicians among the investigators.

Results

A total of 119 MD patients were recruited and analyzed in the study.

SUBMITTER: Wong TS 

PROVIDER: S-EPMC9979401 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature