Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report
Year: 2024
Type: article
Study design: Case Report
Abstract: 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’.
Institutions: National Institutes of Health, National Institute of Neurological Disorders and Stroke, Hacettepe University, Broad Institute, Boston Children's Hospital, Harvard University, Massachusetts Institute of Technology, Assistance Publique – Hôpitaux de Paris, Hôpital Raymond-Poincaré, Université Paris-Saclay
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4407036603