Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
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DOI: 10.3390/cimb45040186
Abstract: Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–phenotype… read more here.
Keywords: glycogen synthesis; pompe disease; synthesis catabolism; synthesis ... See more keywords