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Article

Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.

Journal of medical genetics - 21 Mar 2024

Gu Xinyu, Yu Jiaxi, Jiao Kexin, Deng Jianwen, Xia Xingyu, Qiao Kai, Yue Dongyue, Gao Mingshi, Zhao Chongbo, Dong Jihong, Huang Gongchun, Shan Jingli, Yan Chuanzhu, Di Li, Da Yuwei, Zhu Wenhua, Xi Jianying, Wang Zhaoxia

Abstract excerpt

BACKGROUND: Oculopharyngodistal myopathy (OPDM) is a rare adult-onset neuromuscular disease, associated with CGG repeat expansions in the 5' untranslated region of LRP12, GIPC1, NOTCH2NLC and RILPL1. However, the genetic cause of a proportion of pathoclinically confirmed cases remains unknown. METHODS: A total of 26 OPDM patients with unknown genetic cause(s) from 4 tertiary referral hospitals were included in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37923380
DOI: 10.1136/jmg-2023-109345

Genes

NUTM2B
GIPC1
LRP12
NOTCH2NLC
RILPL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.PMID 37923380Read ↗

Oculopharyngodistal myopathy.Semantic proximity Read ↗

CGG expansion in<i>NOTCH2NLC</i>is associated with oculopharyngodistal myopathy with neurological manifestationsSemantic proximity Read ↗

<i>GIPC1</i>intermediate-length repeat expansion in amyotrophic lateral sclerosisSemantic proximity Read ↗

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GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal MyopathySemantic proximity Read ↗

5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.Semantic proximity Read ↗

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GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.Semantic proximity Read ↗

Expansion of 5’ UTR CGG repeat in RILPL1 is associated with oculopharyngodistal myopathySemantic proximity Read ↗

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