Results 1 -
2
of
2
for
Reduced muscle collagen VI
- ... Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. Am J Med Genet A. 2007 Sep ...
- ... collagen fibers. As a result, cells make a reduced amount of type II collagen. Instead of forming collagen molecules, the abnormal pro- ... Arg453Ter mutation in the COL2A1 gene. Invest Ophthalmol Vis Sci. 2003 ... Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25. In: Adam MP, ...