KEGG   VARIANT: 23224v1
Entry
23224v1                      Variant                               
Name
SYNE2 mutation
Type
Loss of function
Gene
SYNE2  spectrin repeat containing nuclear envelope protein 2 [KO:K19346]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608442
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00563  Emery-Dreifuss muscular dystrophy
Reference
  Authors
Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM
  Title
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
  Journal
Hum Mol Genet 16:2816-33 (2007)
DOI:10.1093/hmg/ddm238
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