Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.
Peat, Rachel A; Gécz, Jozef; Fallon, Justin R; Tarpey, Patrick S; Smith, Raffaella; Futreal, Andrew; Stratton, Michael R; Lamandé, Shireen R; Yang, Nan; North, Kathryn N.
; 18(8): 606-9, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-18602826
Collagen VI regulates peripheral nerve myelination and function.
The expanded collagen VI family: new chains and new questions.
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).
Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing.
Detecting collagen VI in Bethlem myopathy.
Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy.
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
Two novel COLVI long chains in zebrafish that are essential for muscle development.
Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy.
COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.