Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease

We studied a 57-year-old female patient with clinical and biochemical evide nces of McArdle's disease. Her muscle biopsy also revealed signs of mitocho ndrial proliferation, scattered RRF, and a deficit in complex I of the resp iratory chain. Molecular genetic analysis showed that the patient was heter ozygous for the most common mutation at codon 49 in the myophosphorylase ge ne. Mitochondrial DNA analysis of muscle tissue revealed an additional G-to -A transition at nucleotide position 7444 in the cytochrome c oxidase subun it I (Col) gene. (C) 2001 Elsevier Science B.V. All rights reserved.