Chronic Progressive External Ophthalmoplegia
Mostrando 1-12 de 14 artigos, teses e dissertações.
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1. Effect of L-carnitine on exercise performance in patients with mitochondrial myopathy
Exercise intolerance due to impaired oxidative metabolism is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still uncertain whether L-carnitine supplementation is beneficial for patients with MM. The aim of our study was to investigate the effects of L-carnitine on exercise performance in MM. Twelve MM subjects (mean age±SD=35.4
Braz J Med Biol Res. Publicado em: 24/02/2015
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2. Estudo da deglutição em pacientes com miopatia mitocondrial do tipo oftalmoplegia externa crônica progressiva: avaliação clínica, manométrica e videofluoroscópica / Study of swallowing in patients with mitochondrial myopathy chronic progressive external ophthalmoplegia: clinical, manometric and videofluoroscopic evaluation.
As miopatias mitocondriais formam um grupo de desordens clinicamente heterogêneas que podem afetar múltiplos sistemas além do músculo esquelético. A oftalmoplegia externa crônica progressiva (CPEO) é um tipo de miopatia mitocondrial que tem como características alterações nos movimentos oculares, ptose, podendo ter acometimento da musculatura facia
Publicado em: 2008
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3. Chronic Progressive External Ophthalmoplegia
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4. Cardiac abnormalities in chronic progressive external ophthalmoplegia.
This report describes heart disease in a 32-year-old man with the syndrome of chronic progressive external ophthalmoplegia (CPEO). The surface electrocardiogram showed first degree AV block and left bundle-branch block and there was HV prolongation on the His bundle electrogram. Endomyocardial biopsy showed the changes of hypertrophy on light microscopy, and
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5. Chronic Progressive External Ophthalmoplegia
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6. Chronic progressive external ophthalmoplegia and pigmentary degeneration of the retina.
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7. Treatment of ptosis in chronic progressive external ophthalmoplegia.
Seventeen patients with ptosis as a feature of chronic progressive external ophthalmoplegia were managed in accordance with a new protocol. An anterior approach levator advancement was performed on seven patients (13 lids) with more than 4 mm of levator function and a brow suspension procedure on eight patients (14 lids) with minimal levator function, in who
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8. Eyelid leishmaniasis in a patient with neurogenic ptosis.
A patient with chronic progressive external ophthalmoplegia contracted cutaneous leishmaniasis of the upper eyelid. Infection of this site is rare because eyelid movements usually prevent the sandfly vector from biting the skin there. It is postulated that the relative immobility of the upper eyelid in this patient was a major predisposing factor for the inf
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9. Cardiomyopathy in the Kearns-Sayre syndrome.
The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development of progressive congestive cardiac failure that required cardiac transplantation. A review of published report
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10. Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia.
We have recently identified a point mutation in the mitochondrially encoded tRNA(Leu(UUR)) gene which associates with a combination of type II diabetes mellitus and sensorineural hearing loss in a large pedigree. To extend this finding to other syndromes which exhibit a combination of diabetes mellitus and hearing loss we have sequenced all mitochondrial tRN
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11. Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency.
A 19-year-old man born with thyroprivic hypothyroidism, due to congenital development defect, manifested hypogonadism, stunted growth, chronic progressive external ophthalmoplegia (CPEO), diffuse muscle weakness and wasting, right bundle branch block, cerebral atrophy. Muscle biopsy showed mitochondrial abnormalities. Biochemical investigations on muscle dis
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12. Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases.
We have sequenced the tRNA genes of mtDNA from patients with chronic progressive external ophthalmoplegia (CPEO) without detectable mtDNA deletions. Four point mutations were identified, located within highly conserved regions of mitochondrial tRNA genes, namely tRNA(Leu)(UAG), tRNA(Ser)(GCU), tRNA(Gly) and tRNA(Lys). One of these mutations (tRNA(Leu)(UAG))