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GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy

14 Jun 2022

Abstract excerpt

OBJECTIVE: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ptosis, dysarthria, ophthalmoplegia, and distal muscle weakness. Recent studies revealed that GGC repeat expansions in 5'-UTR of LRP12, GIPC1, and NOTCH2NLC are associated with OPDM. Despite these advances, approximately 30% of OPDM patients remain genetically undiagnosed. Herein, we aim to...

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PMID: 35700120
DOI: 10.1002/ana.26436

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GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal MyopathyPMID 35700120Read ↗

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

Oculopharyngodistal myopathy.Semantic proximity Read ↗

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

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

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4Semantic proximity Read ↗

Complex associations of genetic/epigenetic variations of CGG repeats with patient phenotypes in oculopharyngodistal myopathySemantic proximity Read ↗

Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status.Semantic proximity Read ↗

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

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

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.Semantic proximity Read ↗

A 5’ UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathySemantic proximity Read ↗

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal MyopathySemantic proximity Read ↗

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