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Article

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

18 Oct 2024

Abstract excerpt

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...

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PMID: 39967430
DOI: 10.1177/22143602241289705

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