Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1.
Sign Up to like & getrecommendations! 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. read more here.
Keywords: inside outside; causing inside; segmental uniparental; isodisomy causing ... See more keywords
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14045
Abstract: The TRAPPC11 gene encodes a large TRAPPC11 protein containing the foie gras and gryzun domain. Only 13 TRAPPC11 pathogenic variants have been identified. We report the clinical phenotype and molecular features of a child (with… read more here.
Keywords: segmental uniparental; trappc11 truncating; homozygous trappc11; uniparental disomy ... See more keywords