Table 1. Summary of dysferlin myopathy patients: Correlation with protein expression in PBM, skeletal muscle and mutations.

Patient	Sex	Age	Phenotype	PBM WB (%)	Muscle WB (%)	Muscle IH	Nucleotide change DYSF gene	Protein change
P_1	M	31	MM	0	0	Sarcoplasm granular pattern	c.5194G>Tc.5999G>A	p.Glu1732Xp.Arg2000Gln
P_2	M		MM	0	0	Absent	c.1555G>Ac.1555G>A	p.Gly519Argp.Gly519Arg
P_3	M	37	MM	0	0	Absent	c.5159delGc.5159delG	p.Arg1720LeufsX2p.Arg1720LeufsX2
P_4	M	26	LGMD2B	0	0	Absent	c.5509G>Ac.5903G>A	p.Asp1837Asnp.Trp1968X
P_5	F	27	LGMD2B	0	0.2	Absent	c.5979dupAc.5979dupA	p.Glu1994ArgfsX3p.Glu1994ArgfsX3
P_6	F	38	LGMD2B	0	0	Absent	c.154T>Cc.701G>A	p.Trp52Argp.Gly234Glu
P_7	M	30	LGMD2B	0	0	Sarcoplasm granular pattern	c.2779delGc. 4410+13T>G	p.Ala927LeufsX21
P_8	M	36	LGMD2B	0.9	1.5	Patchy sarcolemmal pattern	c.2055+1G>Ac.3805G>T	p.Glu1269X
P_9	F	49	LGMD2B	0	0	Absent	c.4354C>Ac.4354C>A	p.Pro1452Thrp.Pro1452Thr
P_10	F	63	LGMD2B	0	0	ABSENT	c.5525+3A>Gc.5525+3A>G
P_11	F	44	LGMD2B	0	0	Absent	c.5159delGc.5979dupA	p.Arg1720LeufsX2p.Glu1994ArgfsX3
P_12	F	73	LGMD2B	0	0	Absent	c.2875C>Tc.2875C>T	p.Arg959Trpp.Arg959Trp
P_13	M		MM	0	0	Patchy sarcolemmal pattern	c.4003G>Ac.4003G>A	p.Glu1335Lysp.Glu1335Lys
P_14	F	28	DACM	0	0	Absent	c.5594delGc.5594delG	p.Gly1865AlafsX 101p.Gly1865AlafsX 101
P_15	F	29	MM	0	18	Patchy sarcolemmal pattern	c.5979dupAc.9124C>T	p.Glu1994ArgfsX3p.Arg2042Cys
P_16	M	17	LGMD2B	0	0	Sarcoplasm granular pattern	c.4882G>Ac.4882G>A	p.Gly1628Argp.Gly1628Arg
P_17	M	5	LGMD2B	0.2	0	Absent	c.2779delGc.2779delG	p.Ala927LeufsX21p.Ala927LeufsX21

M- male; F- female; MM: Miyoshi myopathy; LGMD2B: limb girdle muscular dystrophy; DACM: Distal anterior compartment myopathy.

The mutations of patients P_1, P_2, P_4, P_5, P_6, P_10, P_13, P_14 [12], [17], P_15 [8] and P_17 [26] have been previously described. The intronic mutation, c. 4410+13T>G, of P_7 has been previously described in the Leyden Muscular Dystrophy web page (www.dmd.nl) (Accession number used NM_003494.2).