Table 1.

Clinical and genetic findings in 11 patients. ^*Patients 7 and 8 are mother and daughter. ^**Patients 10 and 11 are sisters; b  = needs banisters, c = compensatory movements. Y = year, mo = months. S = stable, P = progressive, A  = ambulant, NA = non-ambulant

No	Gene	Gene mutations	Inheritance	Sex	Age years	Age (months) independent ambulation	Course	Current function
1	MTM1	c.674T>C, exon 8, (earlier reported as c.728T>C)	X - mother carrier	M	19	18 m	P	NA (since 9 y old)
2	MTM1	c.1353+1G>A, exon 12, (earlier reported as G(1407+1)A)	X -	M	14	Never	S	NA
3	MTM1	c.1037G>C, p.W346S, exon 10	X -	M	25	18 m	S	A, stairs (+b)
4	DNM2	c.1393C>T, (p.R465W), exon 11	AD - sporadic	M	25	18 m	S	A, stairs (+b), run (+c)
5	DNM2	c.1102G>A, (p.E368K), exon 8	AD - sporadic	F	20	14 m	S	A, stairs (+b), run (+c)
6	DNM2	c.1565G>A, (p.R522H), exon 14	AD -sporadic	F	52	12 m	S	A, stairs (+b), run (+c)
7	DNM2	c.1393C>T, (p.R465W), exon 11	AD -familiar	F *	70	unknown	S till 4th decade	Walks with support
8	DNM2	c.1393C>T –(p.R465W), exon 11	AD (mother = no 7)	F *	42	9 m	S	A, stairs, run (+c)
9	DNM2	c.1852G>A, (p.Ala618Thr), exon 16	AD - sporadic	M	19	17 m	P	NA (since 14 y old)
10	RYR1	c.325C>T (p.Arg109Trp), exon 4+c.7308_7309delTG+c.1453A>G (p.Met485Val), exon 14	AR - parents carriers	F**	28	15 m	S	A, walks indoors
11	RYR1	c.325C>T (p.Arg109Trp), exon 4+c.7308_7309delTG+c.1453A>G (p.Met485Val), exon 14	AR - parents carriers	F **	34	22 m	P	NA (since 13 y)