Table 2.

The gene mutation information of 20 patients with non-dystrophic myotonia.

Pt. ID	Phenotype	Gene	Coding channel	Exon	Nucleotide change	Protein change	Mutation type	Variant classification (ACMG)	Variant source
1	DMC	CLCN1	ClC-1	8	c.T920C	p.F307S	Missense	P	Father
2	DMC	CLCN1	ClC-1	22	c.2527C>T	p.L843F	Missense	LP	Mother
3	DMC	CLCN1	ClC-1	8	c.892G>A	p.A298T	Missense	P	Spontaneous
4	DMC	CLCN1	ClC-1	3	c.350A>G	p.D117G	Missense	P	Spontaneous
5	DMC	CLCN1	ClC-1	12	c.1261dupC	p.R421fs	Frameshift	P	Mother
6	DMC	CLCN1	ClC-1	12	c.1261dupC	p.R421fs	Frameshift	P	Mother
7	DMC	CLCN1	ClC-1	15	c.1679T>C	p.M560T	Missense	P	Spontaneous
8	DMC	CLCN1	ClC-1	2	c.214_215delAG	p.R72fs	Frameshift	P	Mother
9	DMC	CLCN1	ClC-1	19	c.2362C>T	p.Q788X	Missense	LP	Mother
10	DMC	CLCN1	ClC-1	3	c.350A>G	p.D117G	Missense	P	Spontaneous
11	RMC	CLCN1	ClC-1	8.18	c.892G>A	p.A298T	Missense	P	Father
					c.2207C>T	p. T736I	Missense	LP	Mother
12	RMC	CLCN1	ClC-1	3.12	c.433G>T	p.A145S	Missense	P	Father
					c.1277C>A	p.T426N	Missense		Mother
13	RMC	CLCN1	ClC-1	6.8	c.762C>G	p.C254W	Missense	LP	Mother
					c.962T>A	p.V321E	Missense		Father
14	RMC	CLCN1	ClC-1	7.16	c.795T>G	p.D265E	Missense	LP	Father
					c.1872G>T	p.E624D	Missense		Mother
15	RMC	CLCN1	ClC-1	8.9	c.857T>A	p.V286E	Missense	LP	Father
					c.1012C>T	p.R338*	Nonsense	P	Mother
16	RMC	CLCN1	ClC-1	8.9	c.857T>A	p.V286E	Missense	LP	Father
					c.1012C>T	p.R338*	Nonsense	P	Mother
17	RMC	CLCN1	ClC-1	12.19	c.1389ins T	p.F463fs	Frameshift	P	Father
					c.2330del G	p.G777fs	Frameshift		Mother
18	PMC	SCN4A	NaV1.4	22	c.3877G>A	p.V1293I	Missense	P	Spontaneous
19	PMC	SCN4A	NaV1.4	13	c.2065C>T	p.L689F	Missense	P	Spontaneous
20	PMC	SCN4A	NaV1.4	13	c.2065C>T	p.L689F	Missense	P	Spontaneous

Bold text, novel mutation.

^*,a premature translational stop signal. ACMG, The American College of Medical Genetics and Genomics; P, pathogenic; LP, likely pathogenic; DMC, autosomal dominant Thomsen's myotonia congenita; RMC, autosomal recessive Becker's myotonia congenita; PMC, paramyotonia congenita. Patients 5 and 6 were from one family; patients 15 and 16 were from one family.