Article

CGG expansion in<i>NOTCH2NLC</i>is associated with oculopharyngodistal myopathy with neurological manifestations

2020-10-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. Recently, CGG repeat expansions in the noncoding regions of two genes, LRP12 and GIPC1 , have been reported to be causative for OPDM. Furthermore, neuronal intranuclear i...

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Literature Corpus work: bcfa1d8d-eb5b-55cf-b338-7a8496127752
DOI: 10.1101/2020.10.16.20213785

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