KEGG   VARIANT: 4703v1
Entry
4703v1                      Variant                                
Name
NEB mutation
Type
Loss of function
Gene
NEB  nebulin [KO:K18267]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 161650
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00698  Nemaline myopathy
H02299  Arthrogryposis multiplex congenita
Reference
PMID:34561123
  Authors
Laitila J, Wallgren-Pettersson C
  Title
Recent advances in nemaline myopathy.
  Journal
Neuromuscul Disord 31:955-967 (2021)
DOI:10.1016/j.nmd.2021.07.012
Reference
PMID:22367672
  Authors
Yonath H, Reznik-Wolf H, Berkenstadt M, Eisenberg-Barzilai S, Lehtokari VL, Wallgren-Pettersson C, Mehta L, Achiron R, Gilboa Y, Polak-Charcon S, Winder T, Frydman M, Pras E
  Title
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.
  Journal
Prenat Diagn 32:70-4 (2012)
DOI:10.1002/pd.2905
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