Segmental Uniparental Isodisomy and “Inside-to-Outside” Limb-Girdle Muscular Dystrophy

This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.
Source: JAMA Neurology - Category: Neurology Source Type: research