KEGG   VARIANT: 10329v1
Entry
10329v1                      Variant                               
Name
TMEM5 deficiency
Gene
RXYLT1  ribitol xylosyltransferase 1 [KO:K21052]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605862
Network
nt06013  O-Glycan biosynthesis
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
Reference
  Authors
Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attie-Bitach T, Encha-Razavi F, Seta N
  Title
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
  Journal
Am J Hum Genet 91:1135-43 (2012)
DOI:10.1016/j.ajhg.2012.10.009
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