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Published in 2023 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2023.1286
Abstract: This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.
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Keywords:
inside outside;
causing inside;
segmental uniparental;
isodisomy causing ... See more keywords