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

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