Table 2.

The prime genetic mutation responsible for MFMs [185].

Myopathy	Gene of Mutation	nDNA/mtDNA	Muscle and Mitochondria Phenotypes
ab-crystallinopathy	CRYAB	nDNA	Increase the proportion of rubbed-out fibers (low complex II activity), Cox staining negative fibers (low complex IV activity), and paracrystalline inclusions.
BAG3 myopathy	BAG3	nDNA	Increase the proportion of rubbed-out fibers (low complex II activity)
Desminopathy	DES	nDNA	Altered mitochondria distribution. Cox negative fibers (low complex IV activity). Enlarged, vacuolated mitochondria. Mitochondria with abnormal cristae. Mitochondria with paracrystalline inclusion.
DNAJB6	DNAJB6	nDNA	Increase proportion of rubbed-out fibers (low complex II activity), Cox staining negative fibers (low complex IV activity)
FHL1	FHL1	nDNA	Increase the proportion of rubbed-out fibers (low complex II activity), Cox staining negative fibers (low complex IV activity), and Ragged Red Fibers.
Filaminopathy	FLNC	nDNA	Increase the proportion of Cox staining negative fibers (low complex IV activity), Ragged Red Fibers.
Myotilinopathy	MYOT	nDNA	Increase proportion of rubbed-out fibers (low complex II activity), Cox staining negative fibers (low complex IV activity)
Plectinopathy	PLEC	nDNA	Abnormal mitochondria distribution, increased proportion of rubbed-out fibers (low complex II activity), Cox staining negative fibers (low complex IV activity), and paracrystalline inclusions
Titinopathy	TTN	nDNA	Focal areas of mitochondrial depletion, increased proportion of Cox staining negative fibers (low complex IV activity), and paracrystalline inclusions
ZASPopathy	ZASP	nDNA	Increase proportion of rubbed-out fibers (low complex II activity), Cox staining negative fibers (low complex IV activity)