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Ultrastructural Pathology Volume 34, 2010 - Issue 2
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Article

Morphological Findings of Extraocular Myopathy with Chronic Progressive External Ophthalmoplegia

Tee Lang Department of Pathology, Tufts University School of Medicine and Tufts Medical Center, Boston Massachusetts, USA
, MD,
Nora Laver Department of Pathology, Tufts University School of Medicine and Tufts Medical Center, Boston Massachusetts, USA
, MD,
Mitchell B. Strominger New England Eye Center, Tufts University School of Medicine and Tufts Medical Center, Boston Massachusetts, USA
, MD,
Andre Witking New England Eye Center, Tufts University School of Medicine and Tufts Medical Center, Boston Massachusetts, USA
, MD,
Rolf Pfannl Department of Pathology, Tufts University School of Medicine and Tufts Medical Center, Boston Massachusetts, USA
, MD &
Joseph Alroy Department of Pathology, Tufts University School of Medicine and Tufts Medical Center, Boston Massachusetts, USA; and Department of Biomedical Sciences, Tufts University Cummings School of Veterinary Medicine, Grafton, Massachusetts, USACorrespondence[email protected]
, DVM
Pages 78-81 | Received 14 Aug 2009, Accepted 14 Jan 2010, Published online: 01 Mar 2010

REFERENCES

  • Munnich A, Rotig A, Cormier-Daire V, Rustin P. Clinical presentation of respiratory chain deficiency. In: Scriver CR, Beaudet AL, Sly SW, et al., eds. The Metabolic & Molecular Bases of Inherited Diseases, 8th ed. New York:McGraw-Hill Medical; 2001:2261–2274.
  • Fosslien E. Mitichondrial medicine: molecular pathology of defective oxidative phosphorylation. Ann Clin Lab Sci. 2001;31:25–67.
  • DiMauro S, Bonilla E. Mitochondrial encephalomyopathy. In: Engel AG, Franzini-Amstrong C, eds, Myology, 3rd ed. McGraw-Hill, NY, 2004;1623–1662.
  • Vogel H. Mitochondrial myopathies and the role of pathologist in the molecular era. J Neuropathol Exp Neurol. 2001;60:217–227.
  • Taylor RW Schaefer AM, Barron MJ, et al. The diagnosis of mitochondrial disease. Neruromusc Disord. 2004;14:237–245.
  • Lloreta-Trull J, Serrano S. Biology and pathology of the mitochondrion. Ultrastruct Pathol. 1998;22:357–367.
  • Shoffner JM. Oxidative phosphorelation disease. Clinical presentation of respiratory chain deficiency. In: Scriver CR, Beaudet AL, Sly SW, et al., eds. The Metabolic & Molecular Bases of Inherited Diseases, 8th ed. New York:McGraw-Hill Medical; 2001:2367–2423.
  • Wallace DC, Lott MT, Brown MD, Kerstann K. Mitochondria and neuro-ophthalmic diseases. In: Scriver CR, Beaudet AL, Sly SW, et al., eds. The Metabolic & Molecular Bases of Inherited Diseases, 8th ed. New York:McGraw-Hill Medical; 2001:2425–2509.
  • Wabbels B, Ali N, Kunz WS, et al. Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome: interdisciplinary diagnosis and therapy. Ophthalmologe. 2008;105:550–556.
  • Cardaioli E, Da Pozzo P, Malfatti E, et al. Chronic progressive external ophthalmoplegia: a new heteroplsmic tRNALeu(CUN) mutation of mitochondrial 11. DNA. J Neurosci. 2008;272:106–109.
  • Reichmann H, Gold R, Meurers B, et al. Progression of myopathology in Kearns-Sayre syndrome: a morphological follow-up study. Acta Neuropathol. 1993;85:679–681.
  • Hass R H, Parikh S, Falk MJ, et al. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab. 2008;94:16–37.
  • Charles R, Holt S, Kay JM, et al. Myocardial ultrastructure and the development of artioventricular block in Kearns-Sayre syndrome. Circulation. 1981;60:214–219.
  • Wredenberg A, Wibom R, Wilhelmsson H, et al. Increased mitochondrial mass in mitochondrial myopathy mice. Proc Natl Acad Sci USA. 2002;99:15066–15071.
  • Chang TS, Johns DR, Walker D, et al. Ocular clinicopathologic study of mitochondrial encephalomyopathy overlap syndromes. Arch Ophthalmol. 1993;111:1254–1262.
  • Lindal S, Lund I, Torbergsen T, et al. Mitochondrial diseases and myopathies: a series of muscle biopsy speciemens with ultrastructural changes in the mitochondria. Ultrastruct Pathol. 1992;16:263–275.
  • Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004;114:925–931.
  • Carta A, D'Adda T, Carrara F, Zeviani M. Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia. Arch Ophthalmol. 2000;118:1441–1445.
  • Schwartzkopff B, Frenzel H, Breithardt G, et al. Ultrastructural findings in endomyocardial biopsy of patients with Kearns-Sayre syndrome. J Am Coll Cardiol. 1988;12:1522–1528.
  • Kyriancou K, Milkellidou C, Hadjianastasio A, et al. Ultrastructural diagnosis of mitochondrial encephalopathies revisited. Ultrastruct Pathol. 1999;23:163–170.
  • Bril V, Rewcastle NB, Humphrey J. Oculoskeletal myopathy with abnormal mitochondria. Can J Neurol Sci. 1984;11:390–394.

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