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Etiology Genetics COL5A1 or COL5A2 mutation in 40-50% less common mutations identified below Associated conditions Connective tissue disorder characterized by Classification Berlin Classification (1988) - revised Types I - XI exist Villefranche Classification (1998) Presentation Symptoms double-jointedness easily damaged, bruised, & stretchy skin easy scarring & poor wound healing increased joint mobility, joint popping, early arthritis chronic musculoskeletal pain (50%) Physical exam a score of 5 or more on 9-point Beighton-Horan scale defines joint hypermobility

We used deuterium magnetic resonance spectroscopy (DMRS) to provide quantitative information about metabolic flux, fluorodeoxyglucose positron emission tomography (FDG-PET) to measure brain glucose metabolism, and resting state-functional MRI (rs-fMRI) to measure brain functional connectivity

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