نتایج جستجو برای: sayre
تعداد نتایج: 631 فیلتر نتایج به سال:
Kearns-Sayre syndrome (KSS) was first described in 1958 as 'a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy, atrioventricular block and cerebellar ataxia'. The prevalence rate of KSS is ∼1-3 per 100 000 individuals. Here, we report a rare case of a 17-year-old Venezuelan male with KSS.
Gwenola Tosser-Klopp, Philippe Bardou, Olivier Bouchez, Cédric Cabau, Richard Crooijmans, Yang Dong, Cécile Donnadieu-Tonon, André Eggen, Henri C. M. Heuven, Saadiah Jamli, Abdullah Johari Jiken, Christophe Klopp, Cynthia T. Lawley, John McEwan, Patrice Martin, Carole R. Moreno, Philippe Mulsant, Ibouniyamine Nabihoudine, Eric Pailhoux, Isabelle Palhière, Rachel Rupp, Julien Sarry, Brian L. Say...
Kearns-Sayre syndrome is a rare disease linked to mitochondrial inheritance. The characteristic diagnostic triad consists of progressive external ophthalmoplegia, pigmentary degeneration of the retina, and atrioventricular block.1 It may also be associated with mental retardation, ataxia, deafness, muscle weakness, and endocrine disorders, such as diabetes mellitus or hypothyroidism. We present...
The prognosis of progressive ophthalmoplegia in patients with large-scale mitochondrial DNA deletions is highly variable and almost unpredictable. The risk to develop cardiac involvement and sudden cardiac death is strikingly high, especially in patients with Kearns-Sayre syndrome (KSS). The most typical cardiac complications of the disease are conduction defects, which usually begin with left ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید