Article

Expansion of 5’ UTR CGG repeat in RILPL1 is associated with oculopharyngodistal myopathy

2021-09-29

Abstract excerpt

Oculopharyngodistal myopathy is an adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and limb muscles. Trinucleotide repeat expansions in non-coding regions of LRP12, G1PC1and NOTCH2NLC were recently reported to be the etiologies for OPDM. However, a significant portion of OPDM patients still have unknown genetic causes. In this study, we perfo...

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Literature Corpus work: f6d5b236-a7f1-56bd-b800-911bfc355596
DOI: 10.1101/2021.09.18.21263669

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