A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
Abstract Background Oculopharyngodistal myopathy (OPDM) is an autosomal dominant 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, G1PC1, NOTCH2NLC...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-10-01
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Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12920-023-01586-9 |