PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye
Sign Up to like & getrecommendations! Published in 2020 at "Neuron"
DOI: 10.1016/j.neuron.2020.06.007
Abstract: Loss-of-function variants in the PYRC2 gene cause hypomyelinating leukodystrophy 10 (HLD10), but the associated pathogenic mechanisms are unknown. In this issue of Neuron, Escande-Beillard et al. (2020) reveal that PYRC2 is a key enzyme for proper… read more here.
Keywords: hypomyelinating leukodystrophy; pyrc2 related; leukodystrophy meets; leukodystrophy ... See more keywords