Article
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Human molecular genetics - 1 May 2014
Zou Yaqun, Zwolanek Daniela, Izu Yayoi, Gandhy Shreya, Schreiber Gudrun, Brockmann Knut, Devoto Marcella, Tian Zuozhen, Hu Ying, Veit Guido, Meier Markus, Stetefeld Jörg, Hicks Debbie, Straub Volker, Voermans Nicol C, Birk David E, Barton Elisabeth R, Koch Manuel, Bönnemann Carsten G
Abstract excerpt
Collagen VI-related myopathies are disorders of connective tissue presenting with an overlap phenotype combining clinical involvement from the muscle and from the connective tissue. Not all patients displaying related overlap phenotypes between muscle and connective tissue have mutations in collagen VI. Here, we report a homozygous recessive loss of function mutation and a de novo dominant mutation in collagen...
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