O'Grady et al., 2016 - Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. American journal of human genetics   99(5):1086-1105 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
myopathy