Table 2.

Pathologically significant mutations of αA and αB in humans

Disease	Species	Mutation	References
Autosomal dominant congenital cataract	αB	D140N	[9]
		450delA	[8]
		P20S	[11]
		R120G	[10]
	αA	R116C	[7, 12]
		R49C	[13]
		R116H	[14]
		R54P	[15]
Autosomal recessive congenital cataract	αA	W9X	[16]
Desmin-related myopathy	αB	R120G	[10]
Dilated cardiomyopathy	αB	R157H	[17]
		G157S	[18]
Myofibrillar myopathy	αB	Q151X	[20]
		464delCT	[20]
Late-onset distal vacuolar myopathy	αB	G154S	[19]