Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
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DOI: 10.1212/nxg.0000000000000208
Abstract: Objective: To describe the variability of muscle symptoms in patients carrying mutations in the GYG1 gene, encoding glycogenin-1, an enzyme involved in the biosynthesis of glycogen, and to discuss genotype-phenotype relations. Methods: We describe 9… read more here.
Keywords: phenotype genotype; heterogeneity phenotype; muscle; genotype ... See more keywords