Journal article

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity

Rishika A Pace, Rachel A Peat, Naomi L Baker, Laura Zamurs, Matthias Moergelin, Melita Irving, Naomi E Adams, John F Bateman, David Mowat, Nicholas JC Smith, Phillipa J Lamont, Steven A Moore, Katherine D Mathews, Kathryn N North, Shireen R Lamande

ANNALS OF NEUROLOGY | WILEY | Published : 2008

Abstract

OBJECTIVE: The collagen VI muscular dystrophies, Bethlem myopathy and Ullrich congenital muscular dystrophy, form a continuum of clinical phenotypes. Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cause these different phenotypes. METHODS: We studied eight new patients who presented with a spectrum of clinical severity, screened the three collagen VI messenger RNA for mutations, and examined collagen VI biosynthesis and the assembly pathway. RESULTS: All eight patients had heterozygous glycine mutations toward the N-terminal end of the triple helix. The mutations produced two assembly phenotyp..

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Grants

Awarded by National Health and Medical Research Council of Australia


Awarded by NH & MRC Dora Lush Biomedical Research Scholarship


Awarded by Muscular Dystrophy Association USA


Awarded by NIH (National Institute of Neurological Disorders and Stroke)


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

This work was supported by the National Health and Medical Research Council of Australia (284533, S.R.L., J.F.B., K.N.N.), an NH & MRC Dora Lush Biomedical Research Scholarship (249429, R.A.Pe.), a Melbourne Research Scholarship (R.A.Pa.), the Muscular Dystrophy Association USA (MDA4076, S.R.L.), the Murdoch Childrens Research Institute, the University of Melbourne Solander Fellowship (S.R.L.), and the NIH (National Institute of Neurological Disorders and Stroke, NS053672, K.D.M., S.A.M.).