Segmental Uniparental Isodisomy Causing an “Inside-to-Outside” Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1

This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.