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. 2009 Jun 10;19(3):516–522. doi: 10.1111/j.1750-3639.2009.00287.x

Table 2.

ACTA1 mutations associated with actin filament aggregate myopathies.*

Gly15Arg
Leu142Phe
Ala144Ser145 duplication
Gly146Ser
Gly146Asp
Arg147Lys
Asp154Asn
Val163Leu
Ser348Leu
*

Amino acids numbered according to the mature protein sequence, with the two N‐terminal amino acids deleted.