Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family

The authors describe a family of Sephardic Jews with progressive external o phthalmoparesis, skeletal muscle weakness, and parkinsonism. Autosomal rece ssive inheritance was suggested by many consanguineous marriages, although a dominant disorder could not be excluded. No linkage to known progressive external ophthalmoparesis locus was found. The presence of cytochrome c oxi dase-negative ragged-red fibers, biochemically reduced respiratory chain co mplexes, and multiple mitochondrial DNA deletions in muscle biopsies from f our patients suggested a new mitochondrial disorder of intergenomic communi cation.