Table 4.

Comparison of 10 Hz Repetitive stimulation for 5 seconds at Room Temperature against the short exercise and cooling tests.

				Maximum amplitude decrement (% of baseline)
NDM classification	Patient	Mutation	AR / AD	10 Hz repetitive stimulation	SET at Room Temperature	SET after Cooling	SET after Rewarming
MC
	Pt 1	c.180+3 A>T and G190R	AR	80	72	70	87
	Pt 2	c.180+3 A>T and G190R	AR	82	44	66	80
	Pt 3	Homozygous for intronic sequence variant c.1930+6 T>G	AR	94	68	59	62
	Pt 4	R105C, F167L and E624fs	AR	9	24*	24*	No decrement
	Pt 5	180+3A>T and 774+1G>A	AR	25	38	41	18
	Pt 6	G285E**	AR	No decrement	31	20	6
	Pt 7	E624fs	AD	No decrement	8	12	28
	Pt 8	G230E	AD	8	27	45	30
SCM
	Pt 9	G1306A	AD	No decrement	No decrement	10	8
	Pt 10	V1589M	AD	No decrement	No decrement	10	No decrement
PMC
	Pt11	T1313M	AD	No decrement	82	48	65
	Pr 12	T1313M	AD	No decrement	No decrement	56	75
	Pt 13	T1313M	AD	No decrement	73	81	83

MC: myotonia congenita; SCM: sodium channel myotonia; PMC: paramyotonia congenita; Pt: patient; AR: autosomal recessive; AD: autosomal dominant

^*Area decrements did not exceed 20%, therefore SETs were negative.

^**The G285E is considered to be a recessive mutation based on family and functional studies. This patient has had the entire coding sequence of the CLCN1 gene (encompassing consensus spice sites) analysed along with rearrangement analysis to detect exonic deletion/duplications, and only the G285E mutation was detected. We cannot exclude mutations in regulatory sequences elsewhere within the gene.