Key result
Whole-body muscle MRI in a patient with PAX7-congenital myopathy revealed generalized muscle hypotrophy and selective sternocleidomastoid, paraspinal, and thigh muscle involvement.
Why the study?
A new autosomal recessive congenital myopathy caused by biallelic variants in PAX7 was recently described, but phenotype and whole-body muscle MRI patterns remained to be characterized.
Case Report (n=1)
Whole-body muscle MRI reveals a distinct pattern of muscle involvement that could serve as a diagnostic fingerprint for PAX7-congenital myopathy.
Novel PAX7 variant broadens congenital myopathy phenotypes with MRI correlates; leaves open validation in larger cohorts before diagnostic use.
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 PAX7 . 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 PAX7. 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. Generalized muscle hypotrophy and selective sternocleidomastoid, paraspinal and thigh muscle involvement emerge as suggestive findings and could serve as a recognizable fingerprint to differentiate early-onset myopathies within the emerging group of ‘primary satellite cell-opathies’.
No takes yet. Share an insight, caveat, or question.
Haliloğlu et al. (2024) conducted a case report in PAX7-congenital myopathy (n=1). Whole-body muscle MRI was evaluated on Phenotype and whole-body muscle MRI imaging findings. Whole-body muscle MRI in a patient with PAX7-congenital myopathy revealed generalized muscle hypotrophy and selective sternocleidomastoid, paraspinal, and thigh muscle involvement.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: