Kearns-Sayre Syndrome: A Rare Mitochondrial Deletion Disorder
نویسندگان
چکیده
منابع مشابه
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 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 کاملA novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome.
Kearns-Sayre syndrome is a rare disorder often caused by mitochondrial DNA rearrangement. The most commonly reported mitochondrial DNA deletion is 4977 bp in size spanning nucleotides 8469 and 13447. The clinical signs of Kearns-Sayre syndrome include chronic progressive external ophthalmoplegia, retinitis pigmentosa, heart block and cerebellar ataxia, as well as other heterogeneous manifestati...
متن کاملKearns Sayre Syndrome (KSS) - A Rare Cause For Cardiac Pacing
A 22 year old male presented to our clinic with history of fatigue and breathlessness for four years. His clinical history had started during early childhood and was characterized by mental retardation. Mental retardation had prevented him from attending the school. Patient developed bilateral ptosis when he was thirteen years old. He was also giving history of double vision for the past 6 year...
متن کاملDetection 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...
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ژورنال
عنوان ژورنال: Journal of Nepal Paediatric Society
سال: 2013
ISSN: 1990-7982,1990-7974
DOI: 10.3126/jnps.v33i1.6696