<scp>GGC</scp> Repeat Expansion of <scp><i>RILPL1</i></scp> is Associated with Oculopharyngodistal Myopathy

Abstract

Our findings implicate abnormal GGC repeat expansions in the promoter region of RILPL1 as a novel genetic cause for OPDM, and suggest a methylation mechanism and a potential RNA toxicity mechanism are involved in OPDM type 4 pathogenesis. ANN NEUROL 2022;92:512-526.