نتایج جستجو برای: mitochondrial myopathy

تعداد نتایج: 143464  

Journal: :Human molecular genetics 1999
T Taivassalo K Fu T Johns D Arnold G Karpati E A Shoubridge

Mutations in mitochondrial DNA (mtDNA) are the most frequent causes of mitochondrial myopathy in adults. In the majority of cases mutant and wild-type mtDNAs coexist, a condition referred to as mtDNA heteroplasmy; however, the relative frequency of each species varies widely in different cells and tissues. Nearly complete segregation of mutant and wild-type mtDNAs has been observed in the skele...

2011
Jully M. Sanchez Judy Ann Tan Dimitrios Farmakiotis Vikas Aggarwal

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare but important cause of stroke-like symptoms which can often be missed Thambisetty and Newman 2004. We describe a case of a young male presenting with stroke-like episodes, later diagnosed with MELAS in an attempt to improve the understanding about diagnosing MELAS in the appropriate clin...

Journal: :Canadian Medical Association journal 1983
P P Morgan

Heart transplantation in children with mitochondrial cardiomyopathy Genetic defects of mitochondrial energy supply can give rise to a variety of symptoms and virtually any organ or tissue can be involved. 1 In particular, cardiomyopathy can be the presenting symptom of a respiratory enzyme deficiency in infancy. Alternatively, cardiomy-opathy frequently occurs in the course of these diseases. 2...

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