Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy

Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy

(2010) Rui-Zhu Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autosomal recessive Bethlem myopathy

(2009) F. Gualandi et al.   NEUROLOGY

Autosomal recessive inheritance of classic Bethlem myopathy

(2009) A. Reghan Foley et al.   NEUROMUSCULAR DISORDERS

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

(2008) Rishika A. Pace et al.   ANNALS OF NEUROLOGY

Three Novel Collagen VI Chains, α4(VI), α5(VI), and α6(VI)

(2008) Jamie Fitzgerald et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Three Novel Collagen VI Chains with High Homology to the α3 Chain

(2008) Sudheer Kumar Gara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

(2008) L. Merlini et al.   NEUROLOGY