title: Respiratory insufficiency in a Chinese adult with mitochondrial myopathy.
abstract: 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.
authors.affiliation: Yaumatei Chest Clinic, Yaumatei Jockey Club Polyclinic, 145 Battery Street, Kowloon, Hong Kong.
authors.forename: K C
authors.initials: KC
authors.lastname: Chang
authors.forename: Y F
authors.initials: YF
authors.lastname: Mak
authors.forename: W C
authors.initials: WC
authors.lastname: Yu
authors.forename: K K
authors.initials: KK
authors.lastname: Lau
authors.forename: W W
authors.initials: WW
authors.lastname: Yan
authors.forename: T C
authors.initials: TC
authors.lastname: Chow
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001706:Biopsy; D006723:Hong Kong; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D017354:Point Mutation; D012131:Respiratory Insufficiency / Q000209:etiology*