Mitochondrial abnormalities in progressive external ophthalmoplegia.

Three cases of chronic progressive external ophthalmoplegia demonstrated ragged-red fibers. Histochemical stains showed that the ragged-red fiber appearance was produced by abnormal mitochondria in the muscle. Electron microscopic studies demonstrated the ultrastructural origin of the intramitochondrial inclusions seen in ragged-red fibers. The associated abnormalities in lactic acid metabolism possibly represent an underlying generalized defect in metabolism. This evidence suggests that chronic progressive external ophthalmoplegia is a diffuse disease of the mitochondria.

[1]  D. Silberberg,et al.  A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics. , 1967, The American journal of medicine.

[2]  W. Engel,et al.  Effect of lactate infusions on patients with myasthenia gravis , 1974, Neurology.

[3]  V. Dubowitz,et al.  Muscle biopsy: A modern approach , 1973 .

[4]  J. T. Black,et al.  Ragged-red fibers A biochemical and morphological study , 1975, Journal of the Neurological Sciences.

[5]  G. P. Sayre,et al.  Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. , 1958, A.M.A. archives of ophthalmology.

[6]  N. Gonatas.  A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure. , 1967, The American journal of medicine.

[7]  R. Daroff.  Chronic progressive external ophthalmoplegia. A critical review. , 1969, Archives of ophthalmology.

[8]  G. Glaser,et al.  Spongiform encephalopathy with chronic progressive external ophthalmoplegia , 1966, Neurology.

[9]  D. Drachman,et al.  Experimental denervation of ocular muscles. A critique of the concept of "ocular myopathy". , 1969, Archives of neurology.

[10]  T. Kearns.  External Ophthalmoplegia, Pigmentary Degeneration of the Retina, and Cardiomyopathy: A Newly Recognized Syndrome. , 1965, Transactions of the American Ophthalmological Society.

[11]  E. Reynolds.  THE USE OF LEAD CITRATE AT HIGH pH AS AN ELECTRON-OPAQUE STAIN IN ELECTRON MICROSCOPY , 1963, The Journal of cell biology.

[12]  S. Carpenter,et al.  The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin. , 1973, Journal of the neurological sciences.

[13]  L. Kiloh,et al.  Progressive dystrophy of the external ocular muscles (ocular myopathy). , 1951, Brain : a journal of neurology.

[14]  R. Jampel,et al.  Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. , 1961, Archives of ophthalmology.

[15]  W. Engel,et al.  Oculocraniosomatic Neuromuscular Disease With Ragged-Red Fibers: Histochemical and Ultrastructural Changes in Limb Muscles of a Group of Patients With Idiopathic Progressive External Ophthalmoplegia , 1972 .

[16]  A. Spurr.  A low-viscosity epoxy resin embedding medium for electron microscopy. , 1969, Journal of ultrastructure research.

[17]  R. Feldman,et al.  Myopathy and succinylcholine sensitivity. , 1969, American journal of ophthalmology.