CMD Publications: Collagen XII | curecmd

CureCMD No Flair-Transparent.png

Supporting the Congenital Muscular Dystrophy Community

Newly Diagnosed?

Newsletter Signup

CMD Publication Library

Congenital Muscular Dystrophy:

Publication Library.jpg

Collagen 12

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy, Jezel-Stanek, 2019
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts, Witting, 2018
A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects, Punetha, 2017
Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis, Izu, 2016
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy, Hicks, 2013
Recessive and dominant mutations in COL12A1 cause a novel EDS-myopathy overlap syndrome in humans and mice, Zou, 2013
Type XII collagen regulates osteoblast polarity and communication during bone formation, Izu, 2011