Index | PMID | Date | Reference |
---|---|---|---|
1 | 30315213 | 2019 | Roos, S., Sofou, K., Hedberg-Oldfors, C., Kollberg, G., Lindgren, U., Thomsen, C., Tulinius, M., Oldfors, A. (2019) Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile European Journal of Human Genetics . 27 (2): 331-335 . |