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

Ghaoui, Roula; Curtis, Samuel; Kassahn, Karin S

Ghaoui, Roula; Curtis, Samuel; Kassahn, Karin S.

Afiliación

Ghaoui R; Department of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
Curtis S; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.

JAMA Neurol ; 80(8): 868-869, 2023 08 01.

Article en En | MEDLINE | ID: mdl-37213117

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

Asunto(s)

Glucosiltransferasas; Disomía Uniparental; Humanos; Disomía Uniparental/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Disomía Uniparental / Glucosiltransferasas Límite: Humans Idioma: En Revista: JAMA Neurol Año: 2023 Tipo del documento: Article País de afiliación: Australia

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