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

Roula Ghaoui; Samuel Curtis; Karin S Kassahn

doi:10.1001/jamaneurol.2023.1286

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

JAMA Neurol. 2023 Aug 1;80(8):868-869. doi: 10.1001/jamaneurol.2023.1286.

Authors

Roula Ghaoui^{1

2

3}, Samuel Curtis³, Karin S Kassahn^{2

3}

Affiliations

¹ Department of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
² Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
³ Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.

PMID: 37213117
DOI: 10.1001/jamaneurol.2023.1286

No abstract available

Plain language summary

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

MeSH terms

Glucosyltransferases*
Humans
Uniparental Disomy* / genetics

Substances

POGLUT1 protein, human
Glucosyltransferases