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Oculopharyngodistal myopathy (OPDM) is associated with trinucleotide repeat expansions in LRP12 or GIPC1, but the genetic basis of many cases remains unknown. Yu et al. identify GGC repeat expansions in… Click to show full abstract
Oculopharyngodistal myopathy (OPDM) is associated with trinucleotide repeat expansions in LRP12 or GIPC1, but the genetic basis of many cases remains unknown. Yu et al. identify GGC repeat expansions in NOTCH2NLC in Chinese patients with OPDM, and provide evidence for possible underlying pathogenic mechanisms.
Keywords:
repeat expansion;
ggc repeat;
oculopharyngodistal myopathy
Journal Title: Brain
Year Published: 2021
Link to full text (if available)
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Journal Title: Brain
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!