A novel mutation of the myh7 gene in a patient with hypertrophic cardiomyopathy
نویسندگان
چکیده
منابع مشابه
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
PURPOSE To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder. METHODS Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme analysis in muscle and fibroblasts were performed. Relevant parts of the mitochondrial DNA were ...
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ژورنال
عنوان ژورنال: The Turkish Journal of Pediatrics
سال: 2018
ISSN: 0041-4301
DOI: 10.24953/turkjped.2018.03.013