Myopathy can be a key phenotype of membrin (GOSR2) deficiency
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DOI: 10.1002/humu.24247
Abstract: Pathogenic variants in Golgi snap receptor complex member 2 (GOSR2) cause progressive myoclonus epilepsy with ataxia, areflexia, elevated serum creatine kinase and loss of ambulation. Most reported patients are homozygous for the same pathogenic variant… read more here.
Keywords: phenotype; pathogenic variants; disease; key phenotype ... See more keywords