A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12.

This study describes a family of patients with distal muscle atrophy and oculopharyngodistal myopathy (OPDM). Patients with distal muscle atrophy exhibited slowly progressive distal-predominant muscle weakness without ptosis, ophthalmoplegia, or facial weakness. Long-read sequencing confirmed the presence of intermediate and pathogenic CGG repeat expansions in LRP12 in the patients with distal muscle atrophy and OPDM, respectively. This family demonstrated a similar phenotype-genotype correlation dependent on the LRP12 repeat length, as in a previous study, but the case with intermediate repeats could not be classified into a single etiology, even after comprehensive electrophysiological assessments and muscle biopsy.