 Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria. New England Journal of Medicine, 2020; 382 (9): 835 DOI: 10.1056/NEJMoa1907362
A team of researchers have discovered a genetic mutation that reduces a patient’s ability to exercise efficiently.
In a study published in The New England Journal of Medicine, a team including researchers from King’s College London have found a link between a genetic mutation that affects cellular oxygen sensing and a patient’s limited exercise capacity.
The team identified a patient who had a reduced rate of growth, persistent low blood sugar, a limited exercise capacity and a very high number of red blood cells.
The team carried out genetic and protein analysis of the patient, examined their respiratory physiolog...
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