نتایج جستجو برای: mitochondrial myopathy
تعداد نتایج: 143464 فیلتر نتایج به سال:
Mitochondrial functions are intrinsically linked to their morphology and membrane ultrastructure. Characterizing abnormal mitochondrial structural features may thus provide insight into the underlying pathogenesis of inherited and acquired mitochondrial diseases. Following a systematic literature review on ultrastructural defects in mitochondrial myopathy, we investigated skeletal muscle biopsi...
A 66 year old HIV infected male heavy smoker presented with arthralgia, myalgia, and weight loss which was originally ascribed to nucleoside induced mitochondrial toxicity. Despite withdrawal of antiretroviral therapy a proximal myopathy developed. Further investigation excluded malignancy. Polymyositis was diagnosed on muscle biopsy. The patient recovered completely with oral prednisolone. Thi...
Background ‘Mitochondrial Myopathy’ (MM) refers to genetically-confirmed Primary Mitochondrial Disease (PMD) that predominantly impairs skeletal muscle function. Validated outcome measures encompassing core MM domains of weakness, fatigue, imbalance, impaired dexterity, and exercise intolerance do not exist. The goal this study was validate clinically-meaningful, quantitative specific MM. Metho...
ISCU Myopathy, a disease characterized by life-long exercise intolerance and impaired mitochondrial oxidative metabolism, is caused by deficiency of the Fe-S cluster scaffold protein ISCU. We performed gene expression analysis on muscle biopsies from ISCU Myopathy patients to elucidate which molecular processes were transcriptionally remodeled in response to impaired Fe-S cluster assembly. We f...
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