Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy

S. Bohlega, K. Tanji, F. M. Santorelli, M. Hirano, A. Al-Jishi, S. DiMauro

Research output: Contribution to journalArticle

Abstract

Six patients in two unrelated families from the eastern Arabian peninsula presented with childhood-onset progressive external ophthalmoplegia (PEO), mild facial and proximal limb weakness, and severe cardiomyopathy requiring cardiac transplantation. Muscle biopsies showed ragged-red and cytochrome c oxidase-negative fibers. The activities of several complexes in the electron- transport chain were decreased and Southern blot analysis showed multiple mtDNA deletions. The apparent autosomal-recessive inheritance and the association with cardiomyopathy distinguish this syndrome from autosomal- dominant PEO with multiple mtDNA deletions. The combination of autosomal- recessive PEO, cardiomyopathy, and multiple mtDNA deletions appears to be another disease due to a defect of communication between the nuclear and mitochondrial genomes.

Original languageEnglish
Pages (from-to)1329-1334
Number of pages6
JournalNeurology
Volume46
Issue number5
Publication statusPublished - May 1996

ASJC Scopus subject areas

  • Neuroscience(all)

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    Bohlega, S., Tanji, K., Santorelli, F. M., Hirano, M., Al-Jishi, A., & DiMauro, S. (1996). Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology, 46(5), 1329-1334.