Response to Eura et  al.

To the Editor: We appreciate Eura et  al.1 for their interest in our recently published work. We read their letter, which demonstrated none of 159 Japanese individuals with ophthalmopharyngeal myopathy (OPDM) had abnormal CGG repeat expansion in the 5′ untranslated region (5′ UTR) of RILPL1 detected by RP-PCR, with great interest. The repeat sizes of all alleles detected by AL-PCR were within the range observed in unaffected controls. They concluded that the CGG repeat expansion in RILPL1 was rare in the Japanese cohort of individuals with OPDM.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Letter to the Editor Source Type: research