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Table 3 Summary of the phenotypes observed upon expression of NM associated α-actin mutants in cell cultures.

From: Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

Mutant Clinical phenotype Cell line aggreg Rods Fibers/
Cables
Diffuse cyto local Blebs or membrane protrusions
WT - fibroblast    X   
   myoblast    X   
   myotube    X   
D25N Severe NEM ┼ fibroblast X   X +/-  
   myoblast X   X   
   myotube X   X   
V35L Severe NEM fibroblast    X X  
   myoblast    X X  
   myotube X   X   
P38L Severe NEM fibroblast    X X  
   myoblast X   X   X
   myotube    X   
H73L Severe NEM ┼ fibroblast   Cyto X X  
   myoblast    X   
   myotube    X   
I75L Severe NEM fibroblast   IR X   
   myoblast X   X   
   myotube    X X  
E83K Typical NEM fibroblast X   X   
   myoblast    Few X X
   myotube    X   
N115S Typical NEM fibroblast    X +/-  
   myoblast    X   
   myotube    X   
R116H Severe NEM ┼ fibroblast X Cyto, perinuclear X   
   myoblast    Few X X
   myotube    X   X
M132V mild NEM fibroblast    X   
   myoblast X   X   
   myotube    X   
V163M IRM fibroblast X IR + cyto Low incorporation +/-  
   myoblast X IR Few X  
   myotube    Thick fibers   
G182D typical NEM fibroblast    Low incorporation +/-  
   myoblast    X X  
   myotube    X   
R183C Severe NEM ┼ Fibroblast   IR X   X
   Myoblast X   X   X
   Myotube    X   
R183G Int + Severe NEM ┼ Fibroblast X   X X  
   Myoblast    X   
   Myotube    X   
Q246R Mild,
typical and severe NEM
Fibroblast X   X   
   Myoblast    X   X
   Myotube    X   
G251D Severe NEM Fibroblast X   X +/-  
   Myoblast X   X X  
   Myotube    X   
R256H Severe NEM Fibroblast    X +/-  
   Myoblast X   X   
   Myotube    X   
Q263L Severe NEM fibroblast    X   
   myoblast X   X   
   myotube    X   
G268C Mild/typical NEM fibroblast X   X +/-  
   myoblast    X X  
   myotube    X   
M269R Mild NEM fibroblast X   X +/-  
   myoblast    X   
   myotube X   X   
I357L IRM ┼ fibroblast    Low incorporation +/-  
   myoblast    X   
   myotube    X   
  1. NEM nemaline myopathy, IRM: Intranuclear Rod Myopathy, IR intranuclear rods, cyto: cytoplasmic, a cross indicates that the phenotype or normal property (fibers/cables) is present, Int: intermediate ┼ lethal phenotype