KEGG   VARIANT: 1293v1
Entry
1293v1                      Variant                                
Name
COL6A3 mutation
Gene
COL6A3  collagen type VI alpha 3 chain [KO:K06238]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120250
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00831  Primary dystonia
H01341  Collagen VI myopathy
Reference
  Authors
Baker NL, Morgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamande SR
  Title
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
  Journal
Ann Neurol 62:390-405 (2007)
DOI:10.1002/ana.21213
Reference
  Authors
Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmuller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J
  Title
Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
  Journal
Am J Hum Genet 96:883-93 (2015)
DOI:10.1016/j.ajhg.2015.04.010
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