Aberrant Mitochondria in a Bethlem Myopathy Patient with a Homozygous Amino Acid Substitution That Destabilizes the Collagen VI α2(VI) Chain

Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome

(2014) Wen-Xing Ding et al.   Autophagy

Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

(2013) Russell J. Butterfield et al.   HUMAN MUTATION

The collagen VI-related myopathies: muscle meets its matrix

(2011) Carsten G. Bönnemann   Nature Reviews Neurology

ColVI myopathies: where do we stand, where do we go?

(2011) Valérie Allamand et al.   Skeletal Muscle

Early onset collagen VI myopathies: Genetic and clinical correlations

(2010) Laura Briñas et al.   ANNALS OF NEUROLOGY

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

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

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

(2010) Leona D. Tooley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

(2009) John F. Bateman et al.   NATURE REVIEWS GENETICS

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