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

Neurological Institute (Drs. Casali, Santorelli, Fortini, Damiano, and Amabile) and Departments of Neurosciences (Drs. Bonifati, Fabbrini, Locuratolo, Vanacore, Pierallini, and Meco) and Experimental Medicine and Pathology (Dr. D’Amati), "La Sapienza" University, Rome; Telethon Institute for Genetics and Medicine (Drs. Casari and Patrignani), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Hospital Saint Raffaele, Milan; Department of Molecular Medicine (Drs. Santorelli and Carrozzo), IRCCS Ospedale Bambino Gesù, Rome; and NEUROMED (Dr. Pierelli), Istituto Neurologico Mediterraneo, Pozzilli, Italy.

Address correspondence and reprint requests to Dr. Carlo Casali, Istituto di Clinica delle Malattie Nervose e Mentali, Università di Roma—La Sapienza, Viale dell’Università 30-00185, Rome, Italy; e-mail: carlo.casali{at}unizoma1.it

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.

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