A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in RILPL1

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, and distal muscle weakness. The genetic basis was identified in 2019 with CGG repeat expansions in the noncoding region of LRP12. Similar exp...

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Bibliographic Details
Main Authors: Wenjing Wang, Tielun Yin, Xinyu Zhang, Zhaoxia Wang, Tianyun Wang, Shuo Zhang, Yingshuang Zhang, Dongsheng Fan
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Genetics
Subjects:
oculopharyngodistal myopathy
RILPL1
CGG repeat
OPDM4
myopathy
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1472907/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1472907/full

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