KEGG   VARIANT: 58v1
Entry
58v1                      Variant                                  
Name
ACTA1 mutation
Type
Loss of function
Gene
ACTA1  actin alpha 1, skeletal muscle [KO:K10354]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102610
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01810  Congenital myopathy
H02721  Scapulohumeroperoneal myopathy
Reference
  Authors
Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmuller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ
  Title
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
  Journal
Hum Mutat 30:1267-77 (2009)
DOI:10.1002/humu.21059
Reference
  Authors
Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bonnemann CG
  Title
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
  Journal
JAMA Neurol 72:689-98 (2015)
DOI:10.1001/jamaneurol.2015.37
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