Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome
نویسندگان
چکیده
منابع مشابه
Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome.
To establish a noninvasive genetic diagnosing method for Kearns-Sayre syndrome, the authors used the polymerase chain reaction (PCR) technique for detecting mitochondrial DNA (mtDNA) deletions in the platelets and directly sequenced the crossover regions of the deleted mtDNA using the fluorescence-based automated sequencing system. The mtDNA deletions were identified in the platelets of three o...
متن کاملKearns-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 ofprogressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows that...
متن کامل[Kearns-Sayre syndrome].
The authors describe a rare group of symptoms, resulting in progressive external ophthalmoplegia, retinal pigment epithelial dysfunction and cardiac conduction disturbance. The illness belongs to the group of mitochondrial cytopathies. The case extends over the diagnostic possibilities, with special attention on electromyographic diagnostic, clinical symptoms, pathomechanism of the disease, and...
متن کاملMR of Kearns-Sayre Syndrome
A 6-year-old boy was first evaluated because of short stature and hypocalcemia. His mother's pregnancy and delivery had been normal. Growth failure became progressively obvious; it was quantified at -3.5 standard deviations when the patient was 6 months old. Within 2 years, his developmental milestones declined, necessitating special education. When he was 5 years old, carpopedal spasm began; t...
متن کاملRetinal pathology in the Kearns-Sayre syndrome.
Examination of the retinal tissues obtained at necropsy from a 14-year-old boy with Kearns-Sayre syndrome showed marked photoreceptor and pigment epithelial cell loss in the retinal periphery and around the optic nerve head. Electron microscopy of surviving retinal pigment epithelial (RPE) cells indicated a loss of apical microvilli and basal infoldings. The RPE was unusually devoid of melanoso...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1990
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199008000-00011