Table 3.

Mutations described in HSPB5 gene in pathogenic muscle tissues.

Myofibrillar Myopathy	Mutations	Inheritance	Reference
DRM	Ser21AlafsX24	AR	[20]
	Asp109Ala	AD	[21]
	Ser115ProfsTerf129	AR	[22]
	Gly154Ser	AD	[26]
	Asp109 His	AD	[27]
	Gln151X	AD	[28]
	Pro155ArgfsTer163	AD	[28]
	Arg120Gly	AD	[29]
	c.3G > A	AR	[31]
	Ala172ProfsTer14	AD	[113]
DCM	Arg157His	AD	[23]
	Gly154Ser	AD	[25]
	Met1Leu	AR	[30]
	X176Trp	AD	[115]
RCM	Asp109Gly	AD	[111]

DRM: desmin-related myopathies; DCM: dilated cardiomyopathy; RCM: restrictive cardiomyopathy; AD, autosomal dominant; AR: autosomal recessive.