KEGG   VARIANT: 3339v1
Entry
3339v1                      Variant                                
Name
HSPG2 mutation
Type
Loss of function
Gene
HSPG2  basement membrane-specific heparan sulfate proteoglycan core protein isoform b precursor [KO:K06255]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 142461
Network
nt06539  Cytoskeleton in muscle cells
nt06546  IgSF CAM signaling
Disease
H01777  Schwartz-Jampel syndrome
H02155  Dyssegmental dysplasia
Reference
PMID:11101850
  Authors
Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B
  Title
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
  Journal
Nat Genet 26:480-3 (2000)
DOI:10.1038/82638
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