Mitochondrial pseudomyasthenia.

The classic ocular motor presentation of mitochondrial disorders is chronic, symmetric, and diffuse weakness. We describe a man with 25 years of asymmetric ptosis, ophthalmoparesis, and facial weakness that partially responded to steroid therapy. Serologic and electrophysiological investigations for myasthenia gravis were negative, but muscle biopsy confirmed a mitochondrial myopathy. This case illustrates the potential of mitochondrial ophthalmoparesis to mimic the features of ocular myasthenia.

[1]  C. Elger,et al.  Mitochondrial involvement in temporal lobe epilepsy , 2009, Experimental Neurology.

[2]  C. Angelini.  The role of corticosteroids in muscular dystrophy: A critical appraisal , 2007, Muscle & nerve.

[3]  R. Behbehani,et al.  Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody. , 2007, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[4]  P. J. Caballero,et al.  Chronic Progressive External Ophthalmoplegia: A Report of 6 Cases and a Review of the Literature , 2007, The neurologist.

[5]  A. Cruz-Martínez,et al.  [Mitochondrial respiratory chain diseases. Evaluation and variability in 52 patients]. , 2005, Revista de neurologia.

[6]  T. Klockgether,et al.  Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis , 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.

[7]  K. Méhes,et al.  Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy , 1999, Journal of Inherited Metabolic Disease.

[8]  M. Gujrati,et al.  Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy , 2002, Journal of neurology, neurosurgery, and psychiatry.

[9]  T. Mitsui,et al.  Mitochondrial damage in patients with long-term corticosteroid therapy: development of oculoskeletal symptoms similar to mitochondrial disease , 2002, Acta Neuropathologica.

[10]  W. Bradley,et al.  A MERRF/PEO overlap syndrome associated with the mitochondria1 DNA 3243 mutation , 1996, Neurology.

[11]  J. Rossier,et al.  [Atypical manifestation of progressive external ophthalmoplegia]. , 1996, Klinische Monatsblatter fur Augenheilkunde.

[12]  J. Tsai,et al.  CPEO and carnitine deficiency overlapping in MELAS syndrome , 1995, Acta neurologica Scandinavica.

[13]  P. Peterson,et al.  The treatment of mitochondrial myopathies and encephalomyopathies. , 1995, Biochimica et biophysica acta.

[14]  M. Brigell,et al.  Supranuclear Eye Movement Dysfunction in Mitochondrial Myopathy with tRNALEU Mutation , 1995, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[15]  H. Reichmann,et al.  Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. , 1994, Biochemical and biophysical research communications.

[16]  R. Sakuta,et al.  Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO) , 1994, Journal of the Neurological Sciences.

[17]  S. Dimauro,et al.  Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. , 1994, Human molecular genetics.

[18]  C. Lee,et al.  In vitro effects of glucocorticoid on mitochondrial energy metabolism. , 1991, Biochimica et biophysica acta.

[19]  S. Dimauro,et al.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. , 1989, The New England journal of medicine.

[20]  D B Sanders,et al.  AAEE Minimonograph #25: Single‐fiber electromyography in myasthenia gravis , 1986, Muscle & nerve.

[21]  A. Harding,et al.  The clinical features of mitochondrial myopathy. , 1986, Brain : a journal of neurology.

[22]  F. Mastaglia,et al.  Mitochondrial myopathy with cardiomyopathy, lactic acidosis and response to prednisone and thiamine. , 1980, Australian and New Zealand journal of medicine.