Table 1

A list of patients and control subjects assayed by the Bionano Saphyr platform in the current study. More detailed description of results can be found in online supplementary table 1

	ID	Sex	Age (years)	Onset (years)	Family history	CK (U/L)	EMG	Southern blot (4q35)			Optical mapping (Nb.BssSI enzyme, 4q35)			Optical mapping (Nt.BspQI enzyme, 4q35)
	ID	Sex	Age (years)	Onset (years)	Family history	CK (U/L)	EMG	Length (kb）	Units	Allele	Units	Allele	Read count	Units	Allele	Read count
Patient cohort 1	P01	F	37	28	+	104	Mild myopathic change	~20	~4	4qA	4	4qA	6	4.3±0.3	4qA	38
	P01	F	37	28	+	104	Mild myopathic change	~38	>10	4qB	22	4qB	5	22.4±0.2	4qB	23
	P02	F	18	12	+	379	Myopathic change	~18	~3	4qA	3	4qA	25	–	–	–
	P02	F	18	12	+	379	Myopathic change	~98	~28	4qA	28	4qA	10	–	–	–
	P03	F	43	30	+	110	Mild myopathic change	~18	~3	4qA	3	4qA	27	–	–	–
	P03	F	43	30	+	110	Mild myopathic change	~38	＞10	4qA	11	4qA	34	–	–	–
	P04	M	27	11	–	1406	Myopathic change	~16	~3	4qA	3	4qA	18	–	–	–
								~61	~17	4qB	19	4qB	42
								~76	~21	4qA	23	4qA	30
	P05	F	41	31	+	95	Normal	~12	~2	4qA	2	4qA	12	–	–	–
								~38	~10	4qA	11	4qA	18
								>38	＞10	4qA	17	4qA	60
Patient cohort 2	P06	F	14	6	–	406	Myopathic change	–	–	–	2	4qA	3	2.2±0.3	4qA	32
											15	4qB	4	15.0±0.2	4qB	36
											27	4qA	3	27.2±0.4	4qA	5
	P07	M	23	18	–	871	Myopathic change	–	–	–	4	4qA	6	–	–	–
	P07	M	23	18	–	871	Myopathic change	–	–	–	20	4qA	11	–	–	–
	P08	M	18	13	–	538	Myopathic change	~21.5	~5	4qA	5	4qA	6	–	–	–
	P08	M	18	13	–	538	Myopathic change	>63.5	>17	4qA	25	4qA	9	–	–	–
	P09	F	33	19	–	269	Mild myopathic change	~21.5	~5	4qA	5	4qA	33	–	–	–
	P09	F	33	19	–	269	Mild myopathic change	>63.5	>17	4qA	18	4qA	26	–	–	–
	P10	F	39	28	–	176	Myopathic change	~15	~3	4qA	3	4qA	17	–	–	–
	P10	F	39	28	–	176	Myopathic change	>63.5	>17	4qA	28	4qA	8	–	–	–
	P11	M	20	14	+	379	Myopathic change	~15	~3	4qA	3	4qA	16	–	–	–
	P11	M	20	14	+	379	Myopathic change	>63.5	>17	4qA	32	4qA	12	–	–	–
	P12	F	15	10	–	514	No data	~12	~2	4qA	2	4qA	10	–	–	–
	P12	F	15	10	–	514	No data	~48.5	15	4qA	16	4qA	18	–	–	–
	P13	F	53	32	+	341	Myopathic change	~18.5	~4	4qA	4	4qA	18	–	–	–
	P13	F	53	32	+	341	Myopathic change	>63.5	>17	4qB	18	4qB	18	–	–	–
Control	C01	F	–	–	–	–	–	–	–	–	19	4qB	8	18.8±0.3	4qB	22
	C01	F	–	–	–	–	–	–	–	–	47	4qA	10	46.5±0.5	4qA	13
	C02	M	–	–	–	–	–	–	–	–	18	4qA	8	18.6±0.3	4qA	7
	C02	M	–	–	–	–	–	–	–	–	20	4qA	9	20.5±0.1	4qA	8
	C03	M	–	–	–	–	–	–	–	–	13	4qB	4	12.7±0.5	4qB	20
	C03	M	–	–	–	–	–	–	–	–	22	4qB	4	22.2±0.4	4qB	22

More detailed description of results can be found in online supplementary table 1.
CK, creatine kinase; EMG, electromyography; F, female; M, male.