Article
Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy.
Molecular genetics and metabolism - 1 Jan 2025
Blake Jeanna M, Miller Andrew D, Marr Jacqueline L, Ekenstedt Kari J
Abstract excerpt
Glycogen storage diseases (GSDs) are rare, typically inherited, disorders caused by various defects in glycogen metabolism enzymes, generally resulting in the accumulation of glycogen in several tissues. Recently, two young adult Basset Hound (BH) littermates were diagnosed with GSD via postmortem histopathology, with excess glycogen manifesting in both cardiac and smooth muscle. Using whole genome sequencing, a...
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