https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1472907/full
Frontiers | A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in RILPL1
BackgroundOculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive ptosis, ophthalmoplegia, dysphagia, dysarthria...