Respiratory insufficiency in a Chinese adult with mitochondrial myopathy

Hong Kong Med J. 2002 Apr;8(2):137-40.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People / genetics
  • Biopsy
  • Hong Kong
  • Humans
  • Male
  • Mitochondrial Myopathies / complications
  • Mitochondrial Myopathies / diagnosis*
  • Mitochondrial Myopathies / genetics
  • Muscle, Skeletal / pathology
  • Point Mutation
  • Respiratory Insufficiency / etiology*