Associated Papers
Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.
Mitsuhashi S et al.
Current Opinion in Neurology, 2013
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
Spiekerkoetter U et al.
Human Mutation, 2003
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