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

Abstract Background Oculopharyngodistal myopathy (OPDM) is a hereditary muscle disease caused by CGG/CCG repeat expansions in six genes. Although the clinical features are often similar, such as ptosis, dysphagia, and distal muscle weakness, the age at onset vary widely, and the mechanisms underlyin...

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Главные авторы:	Nobuyuki Eura, Satoru Noguchi, Megumu Ogawa, Kyuto Sonehara, Ai Yamanaka, Takashi Kurashige, Shinichiro Hayashi, Yukinori Okada, Kazuma Sugie, Ichizo Nishino
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2026-03-01
Серии:	Genome Medicine
Предметы:	Epigenomic modification Long-read sequencing Neuromuscular disorder Oculopharyngodistal myopathy Triplet repeat
Online-ссылка:	https://doi.org/10.1186/s13073-026-01617-x
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