We report here the clinical, biochemical and molecular genetic features of two women (mother and daughter) with onset, in their twenties, of eyelid ptosis and dysphagia mimicking an Oculo-Pharyngeal Muscular Dystrophy (OPMD). Later on they evidenced ophtalmoplegia and proximal muscle weakness as well as lactic acidosis. Myopathic EMG was present in both patients. Muscle biopsy revealed a number of 'ragged red fibers' and cytochrome c oxidase negative fibers in both cases. Biochemical analysis showed a partial cytochrome c oxidase deficiency. Southern blot analysis revealed mitochondrial DNA (mtDNA) multiple deletions that were confirmed by PCR studies. Although these patients seemed to be initially affected by OPMD, they had a mitochondrial myopathy with mtDNA multiple deletions. These genetic aspects are compatible with a primary genetic change in the nuclear DNA secondarily damaging the mtDNA. This suggests an autosomal-dominant trait in this family, although a matrilinear inheritance cannot be ruled out.
|Translated title of the contribution||Mitochondrial myopathy with clinical expression of an oculo-pharyngeal muscular dystrophy: A familial case|
|Number of pages||6|
|Journal||Rivista di Neurobiologia|
|Publication status||Published - 1996|
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