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Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile
Mitochondrial myopathies are a heterogeneous group of disorders associated with a wide range of clinical phenotypes. We present a 16-year-old girl with a history of exercise intolerance since childhood. Acylcarnitine species suggestive of multiple acyl-CoA dehydrogenase deficiency were found in seru...
Gorde:
| Argitaratua izan da: | Eur J Hum Genet |
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| Egile Nagusiak: | , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer International Publishing
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6336879/ https://ncbi.nlm.nih.gov/pubmed/30315213 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0286-0 |
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