Table 2. Summary of patients with normal expression of dysferlin included in this study.

Patient	Sex	Age	Phentoype	PBMWB(%)	MuscleWB(%)	MuscleIH	Gene	Nucleotide change	Protein change
C_1	M	19	LGMD2A	121.6	110.5	2	CAPN3	c.2362_2363delinsTCATCTc.2362_2363delinsTCATCT	p.Arg788SerfsX14p.Arg788SerfsX14
C_2	M	48	BMD	100	96	3	DYS	c.1704+2T>A	p.Cys569ValfsX18
C_3	M	73	POMPE	116.2	93.6	3	GAA	c.1195_1G>Ac.1856G>A	IVS17p.Ser619Asn
C_4	F	40	POMPE	125	118.7	3	GAA	c.32_13T>Gc.236_246delCCACACAGTGC	IVS1-13 T>Gp.Pro79ArgfsX13
C_5	F	56	POMPE	110.5	100	N	GAA	c.32_13T>Gc.2600_2604delTGCTGinsA	IVS1-13 T>G; p.Val1867GlufsX19
C_6	F	30	ANO5	100	100	N	ANO5	c.191dupAc.1627dupA	p.Asn64LysfsX15p.Met543AsnfsX11
C_7	M	35	Mitochondrial myopathy	100	98.6	N
C_8	F	46	Nonaka	110.5	100	1	GNE	c.934G>Ac.1519A>C	p.Gly312Argp.Thr507Pro
C_9*	M	62	HyperCKs	140	105.2	1
C_10	F		McArdle	100	100	N	PYGM	c.1979C>Tc.1760T>C	p.Ala660Aspp.Leu587Pro
C_11	F	59	VCP	149.4	130.1	N	VCP	c.277C>T	p.Arg93Cys
C_12	M	55	PM	100	77.5	N
C_13	F	57	PM	98.3	89.9	3
C_14*	M	43	LGMD	100	99.5	3
C_15*	M	46	LGMD	150	132.6	3
C_16*	M	43	LGMD	100	100	2
C_17*	F	29	HyperCKs	98.3	93.3	N
C_18*	M	61	Myalgias hiperCKs	140	151.1	2
C_19*	M	59	Muscular dystrophy	114.9	108	1
C_20*	M	49	Calf atrophy	125.5	100	N
C_21*	M	42	MM like	100	100	1

N-Normal; 1- reduced sarcolemma; 2- Reduced sarcolemma and increased sarcoplasm staining; 3- Variable sarcoplasm staining.

*Patients with DYSF gene analyzed and no mutations found.

M:male; F: female; LGMD: limb girdle muscle dystrophy; VCP: valosin containing protein; PM: polimyositis; MM: Miyoshi myopathy. HMZ: homozygous.

The mutation of pathological control C_X have been previously described [38].