Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family
- 27 March 2001
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 56 (6) , 802-805
- https://doi.org/10.1212/wnl.56.6.802
Abstract
The authors describe a family of Sephardic Jews with progressive external ophthalmoparesis, skeletal muscle weakness, and parkinsonism. Autosomal recessive 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 oxidase-negative ragged-red fibers, biochemically reduced respiratory chain complexes, and multiple mitochondrial DNA deletions in muscle biopsies from four patients suggested a new mitochondrial disorder of intergenomic communication.Keywords
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