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

Autor:	Roula Ghaoui, Samuel Curtis, Karin S. Kassahn
Rok vydání:	2023
Předmět:	Neurology (clinical)
Zdroj:	JAMA Neurology.
ISSN:	2168-6149
DOI:	10.1001/jamaneurol.2023.1286
Popis:	This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::31cd3625cbb5797e4edf5ecae55588d2 https://doi.org/10.1001/jamaneurol.2023.1286 Zobrazit plný text záznamu