Hong Kong Med J 2002;8:137-40 | Number 2, April 2002
Respiratory insufficiency in a Chinese adult with mitochondrial myopathy
KC Chang, YF Mak, WC Yu, KK Lau, WW Yan, TC Chow
Yaumatei Chest Clinic, Yaumatei Jockey Club Polyclinic, 145 Battery Street, Kowloon, Hong Kong
Mitochondrial myopathy is an important but uncommon cause of respiratory insufficiency in adults. We report the first case of respiratory insufficiency associated with adult-onset mitochondrial myopathy seen in a Chinese adult in Hong Kong. The patient presented with peripheral oedema and shortness of breath over 2 to 3 days. There was a history of gradual progressive limb weakness over approximately 2 years, hypertrophic cardiomyopathy, intermittent diarrhoea, and weight loss. The diagnosis was made by skeletal muscle biopsy and molecular study, which revealed the A3243G point mutation.
Key words: MELAS syndrome; Mitochondrial myopathies; Myocardial diseases; Respiratory insufficiency
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