Articles with "associated oculopharyngodistal" as a keyword



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The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.

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Published in 2022 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2022.01.012

Abstract: Recent studies indicate that CGG repeat expansions in LRP12, GIPC1, and NOTCH2NLC are associated with oculopharyngodistal myopathy (OPDM) types 1, 2, and 3, respectively. However, some clinicopathologically confirmed OPDM cases continue to have unknown genetic… read more here.

Keywords: repeat; associated oculopharyngodistal; cgg repeat; repeat expansion ... See more keywords