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It has been shown that heteroplasmic mitochondrial DNA variants can be tissue specific. However, whether mitochondrial DNA variants are specific by blood cell types has not been investigated. Motivated by this question and using mitochondria sequences extracted from RNAseq data from six distinct blood cell types (neutrophil, monocyte, myeloid dendritic, natural killer, T and B), we thoroughly compared...
Mitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose.We report a two and a half year old girl with clinical symptoms compatible with Leigh disease but with no definitive diagnosis.Using next generation sequencing we found that mutation 3697G>A was responsible for the patient's clinical symptoms. Corroboration was performed via segregation analysis...
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