Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report.

PAX7 is a myogenesis transcription factor important for satellite cell specification and function and thus involved in muscle growth, maintenance, repair and regeneration. Recently, a new autosomal recessive congenital myopathy was described that is caused by biallelic variants in . Our aim is to describe phenotype and whole-body muscle MRI with follow-up imaging findings in a patient with a novel homozygous missense variant in We also compare our patients' imaging features with a patient reported in the initial study, to identify a possible emerging pattern for PAX7-congenital myopathy.