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Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1 |
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| Authors: | N. Darin C. Hedberg‐Oldfors A.‐K. Kroksmark A.‐R. Moslemi G. Kollberg A. Oldfors |
| Affiliation: | 1. Department of Pediatrics, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg;2. Department of Pathology and Genetics, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg;3. Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden |
| Abstract: | |
| Keywords: | benign disease exercise intolerance m.3250T>C mitochondrial mitochondrial DNA MTTL1 myopathy |