Figure 1. Screening of the Patients.

A total of 198 families with clinical or clinicopathologic diagnoses of oculopharyngodistal myopathy (OPDM) or oculopharyngeal muscular dystrophy (OPMD) were screened for CGG repeat expansion. Patients with GCN repeats in PABPN1 were excluded. Muscle biopsy samples were available from 112 families, and the samples from 65 families showed rimmed vacuoles. Among the samples with rimmed vacuoles, repeat expansion was identified in the samples from 54 families (42 in LRP12, 5 in GIPC1, and 7 in NOTCH2NLC). No sequence variant was identified in 47 families that did not show rimmed vacuoles in muscle biopsy samples.

^aPatients with OPDM_GIPC1 and OPDM_NOTCH2NLC have been previously reported and described.^14,15