Article

A 5’ UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathy

2026-04-01

Abstract excerpt

Oculopharyngodistal myopathy (OPDM) is a group of rare, hereditary myopathies characterized by ptosis, external ophthalmoplegia, facial, pharyngeal and distal limb weakness and classically with rimmed vacuoles and intranuclear inclusions on muscle biopsy. Heterozygous CCG-CGG repeat expansions in the 5’ UTR of six genes are known to cause OPDM, only one of which ( ABCD3 ) has been reported in individuals of Europ...

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Literature Corpus work: 5c3e3ee7-9b2e-5796-ae16-a0ce095f472c
DOI: 10.64898/2026.03.27.26349107

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