Table 2.

The results of RT-PCR from muscles

No.	Exon	Mutation	Amino acid change (predicted)	Exon skip in mRNA
3	9	c.883C > T	p.Arg295*	−
6	25	c.3304C > T	p.Gln1102*	+
7	25	c.3337C > T	p.Gln1113*	+
9	25	c.3430C > T	p.Gln1144*	+
12	27	c.3613G > T	p.Glu1205*	+
14	31	c.4327C > T	p.Gln1443*	+
19	38	c.5371C > T	p.Gln1791*	+
20	38	c.5407C > T	p.Gln1803*	+
24	41	c.5899C > T	p.Arg1967*	−
25	41	c.5899C > T	p.Arg1967*	−