Hyperventilation due to mitochondrial myopathy

Kleinle S , Schneider V , Moosmann P , Brandner S , Krähenbühl S , Liechti-Gallati S. A novel mitochondrial tRNA^Phe mutation inhibiting anticodon stem formation associated with a muscle disease. Biochem Biophys Res Comm 1998; 247: 112–15.

Johns DR. The other human genome: mitochondrial DNA and disease. Nature Med 1996; 2: 1065–8.

Chinnery PF , Turnbull DM. Mitochondrial medicine. Q J Med 1997; 90: 657–67.

Wallace DC. Mitochondrial diseases in man and mouse. Science 1999; 283: 1482–8.

Chinnery PF , Turnbull DM. Clinical features, investigation, and management of patients with defects of mitochondrial DNA. J Neurol Neurosurg Psychiatry 1997; 63: 559–63.

Chinnery PF , Howell N , Lightowlers RN , Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997; 120: 1713–21.