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

Carlo Casali, V. Bonifati, F. M. Santorelli, G. Casari, D. Fortini, A. Patrignani, G. Fabbrini, R. Carrozzo, G. D'Amati, N. Locuratolo, N. Vanacore, M. Damiano, A. Pierallini, F. Pierelli, G. A. Amabile, G. Meco

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)802-805
Number of pages4
JournalNeurology
Volume56
Issue number6
Publication statusPublished - Mar 27 2001

ASJC Scopus subject areas

  • Neuroscience(all)

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