The tRNA(Ile) Variant m.4309G≥A May Not Cause Kearns-Sayre Syndrome
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 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 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: Transplantation
سال: 2019
ISSN: 0041-1337
DOI: 10.1097/tp.0000000000002952