منابع مشابه
[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
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...
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Recent theoretical studies indicate that deep architectures [4, 2] are needed to efficiently model complex distributions and to achieve better generalization performance on challenging recognition tasks. The belief that additional levels of functional composition will yield increased representational and modeling power is not new [13, 9, 16]. In practice, learning in deep architectures had prov...
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...
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The CRISPR/Cas9 technology is a welcome breakthrough for genome editing, owing to its precision, efficiency, versatility and ease of adoption. We recently reported the first application of CRISPR/Cas9 for biallelic mutations in stably transformed Populus, extending the species range of this powerful technology to woody perennials. An underappreciated obstacle in genome editing of outcrossing sp...
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ژورنال
عنوان ژورنال: XVII-XVIII
سال: 2018
ISSN: 0291-3798,2117-590X
DOI: 10.4000/1718.1558