Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Sarah Delbaere Tibbe Dhooge Delfien Syx Florence PetitNathalie GoemansAnne DestréeOlivier M Vanakker Teddy Jégu Sofie SymoensFransiska Malfait

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Our data further support the significant clinical overlap between myopathic EDS and collagen VI-related myopathies, and emphasize the variant-specific consequences of collagen XII defects.

Keyphrases

extracellular matrix
wound healing
tissue engineering
electronic health record
late onset
machine learning