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.
3 Genes / Markers
Marker Type Symbol Name
Gene actc1b actin alpha cardiac muscle 1b
Gene h2az2a H2A.Z variant histone 2a
Gene pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1
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