Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively
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چکیده
منابع مشابه
Diagnose Kearns–Sayre syndrome genetically and investigate the phenotype comprehensively
We read the article by Leal et al. with interest about a 17-year-old male with Kearns–Sayre syndrome (KSS), diagnosed upon the clinical presentation, instrumental findings and the muscle biopsy findings [1]. Despite some peculiarities of the phenotype, the presentation at onset was mild and the further course uneventful. We have the following comments and concerns. The main disadvantage of this...
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ژورنال
عنوان ژورنال: Oxford Medical Case Reports
سال: 2016
ISSN: 2053-8855
DOI: 10.1093/omcr/omw059