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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

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It is the primary energy source for enterocytesthe cells that line your intestinesand is essential in maintaining the structural integrity of the intestinal lining

Aguilar-Arnal, L., Katada, S., Orozco-Solis, R

Sections of liver lobes, kidney, left ventricle tissue were collected, snap frozen in liquid nitrogen, and then stored at 80 C for future analysis