We report a case of oculoskeletal myopathy with abnormal mitochondria in which the chief clinical feature was ophthalmoplegia. Muscle weakness was mild and there were no retinal or cerebellar abnormalities, no deafness and no cardiac defects. The muscle biopsy specimen revealed subsarcolemmal mitochondrial aggregates and ragged red fibers. Electronmicroscopy showed that the aggregates were made up of mitochondria of variable size with structural abnormalities of the cristae and crystalloid inclusions. We believe that this oculoskeletal myopathy is distinct from Kearn-Sayre syndrome. © 1988 Masson Italia Periodici.
Mitochondrial oculoskeletal myopathy: case report / Colombo, A.; Merelli, E.; Sola, P.; Panzetti, P.; Quaglino, D.; Fornieri, C.. - In: ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES. - ISSN 0392-0461. - 9:4(1988), pp. 385-389. [10.1007/BF02334004]
Mitochondrial oculoskeletal myopathy: case report
Panzetti P.;Quaglino D.;Fornieri C.
1988
Abstract
We report a case of oculoskeletal myopathy with abnormal mitochondria in which the chief clinical feature was ophthalmoplegia. Muscle weakness was mild and there were no retinal or cerebellar abnormalities, no deafness and no cardiac defects. The muscle biopsy specimen revealed subsarcolemmal mitochondrial aggregates and ragged red fibers. Electronmicroscopy showed that the aggregates were made up of mitochondria of variable size with structural abnormalities of the cristae and crystalloid inclusions. We believe that this oculoskeletal myopathy is distinct from Kearn-Sayre syndrome. © 1988 Masson Italia Periodici.
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