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 journalArticle

29 Citations (Scopus)

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

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Mitochondrial Myopathies
Ophthalmoplegia
Parkinsonian Disorders
Mitochondrial DNA
Jews
Mitochondrial Diseases
Muscle Weakness
Electron Transport Complex IV
Electron Transport
Marriage
Skeletal Muscle
Communication
Biopsy
Muscles

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Casali, C., Bonifati, V., Santorelli, F. M., Casari, G., Fortini, D., Patrignani, A., ... Meco, G. (2001). Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology, 56(6), 802-805.

Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. / Casali, Carlo; Bonifati, V.; Santorelli, F. M.; Casari, G.; Fortini, D.; Patrignani, A.; Fabbrini, G.; Carrozzo, R.; D'Amati, G.; Locuratolo, N.; Vanacore, N.; Damiano, M.; Pierallini, A.; Pierelli, F.; Amabile, G. A.; Meco, G.

In: Neurology, Vol. 56, No. 6, 27.03.2001, p. 802-805.

Research output: Contribution to journalArticle

Casali, C, Bonifati, V, Santorelli, FM, Casari, G, Fortini, D, Patrignani, A, Fabbrini, G, Carrozzo, R, D'Amati, G, Locuratolo, N, Vanacore, N, Damiano, M, Pierallini, A, Pierelli, F, Amabile, GA & Meco, G 2001, 'Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family', Neurology, vol. 56, no. 6, pp. 802-805.
Casali C, Bonifati V, Santorelli FM, Casari G, Fortini D, Patrignani A et al. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology. 2001 Mar 27;56(6):802-805.
Casali, Carlo ; Bonifati, V. ; Santorelli, F. M. ; Casari, G. ; Fortini, D. ; Patrignani, A. ; Fabbrini, G. ; Carrozzo, R. ; D'Amati, G. ; Locuratolo, N. ; Vanacore, N. ; Damiano, M. ; Pierallini, A. ; Pierelli, F. ; Amabile, G. A. ; Meco, G. / Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. In: Neurology. 2001 ; Vol. 56, No. 6. pp. 802-805.
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