Pathogenic CGG expansions in oculopharyngodistal myopathy exhibit distinct characteristics of each causative gene on the flanking sequences as well as methylation status
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Open Access
- 27 March 2026
- journal article
- research article
- Published by Springer Nature in Genome Medicine
- Vol. 18 (1) , 33
Abstract
Oculopharyngodistal myopathy (OPDM) is a hereditary muscle disease caused by CGG/CCG repeat expansions in six genes. Although the clinical features are oftKeywords
Funding Information
- Intramural Research Grants for Neurological and Psychiatric Disorders of NCNP (6-9, 5-7)
- Intramural Research Grants for Neurological and Psychiatric Disorders of NCNP (5-5, 5-6)
- Japan Agency for Medical Research and Development (JP24ak0101195s0102)
- Japan Agency for Medical Research and Development (20ek0109490h0001, JP19ek0109285h0003, JP21ek0109490h0002, and JP 24ek0109617s0403)
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