KEGG   VARIANT: 2010v1
Entry
2010v1                      Variant                                
Name
EMD mutation
Type
Loss of function
Gene
EMD  emerin [KO:K12569]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300384
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00563  Emery-Dreifuss muscular dystrophy
Reference
PMID:11587540
  Authors
Holt I, Clements L, Manilal S, Morris GE
  Title
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?
  Journal
Biochem Biophys Res Commun 287:1129-33 (2001)
DOI:10.1006/bbrc.2001.5708
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