J Allergy Clin Immunol Pract 9(1):236-244 e9
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FOXO3a induces a set of atrophy-related genes, specifically the muscle-specific ubiquitin ligases, MAFbx and MuRF-1, which promote the breakdown of the myofibrillar apparatus [17]
LXR/RXR heterodimers regulate their target genes by recognizing specific LXR-response elements (LXRE) consisting of two direct hexanucleotide repeats separated by four nucleotides [98]
To meet the diagnostic criteria for mEDS, a person must meet: Major criterion 1 AND at least one other major criterion OR Major criterion 1 AND at least three minor criteria Major Criteria Congenital muscle hypotonia and/or muscle atrophy that improves with age Proximal joint contractures (knee, hip, and elbow) Hypermobility of distal joints Minor Criteria Soft, doughy skin Atrophic scarring Motor developmental delay Myopathy on muscle biopsy Periodontal EDS (pEDS) If a person meets the diagnostic criteria for pEDS, genetic testing should be done to confirm the diagnosis
