NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China

Table 1 Basic clinical information of 51 Patients

No	Sex	Age (years)		Phenotype	Clinical manifestations								Positive muscle biopsy	Family history
No	Sex	At onset	At diagnosis	Phenotype	Movement disorders	Wheelchair dependency	Elevated CK/ CK-MB level	Gastrocnemius hypertrophy	Cardiac abnormalities	Lungs failure	Rib abnormalities	Cognitive disorders	Positive muscle biopsy	Family history
1	M	2	11	DMD	+	+	+	+				+		+
2	M	1	10	DMD	+	+	+
3	M	6	7	MD	+		+			+				+
4	M	1	6	DMD	+		+						+
5	M	3	8	MD	+		+							+
6	M	2	6	MD	+		+	+
7	M	5	19	DMD	+	+
8	M	2	2	MD	+		+
9	M	1	9	MD			+	+					+
10	M	2	10	MD	+		+							+
11	M	7	8	MD	+		+				+
12	M	2	3	MD	+		+
13	M	0.16	2	MD	+		+
14	M	3	6	MD	+		+	+
15	M	3	3	MD	+		+
16	M	4	5	MD			+	+
17	M	3	4	MD	+		+							+
18	M	2	6	MD	+		+	+
19	M	4	8	MD	+		+
20	M	5	10	MD	+		+	+					+	+
21	M	0.66	0.66	MD			+
22	M	1	6	MD	+		+	+					+
23	M	3	8	MD	+		+
24	M	1	1	MD	+		+
25	M	2	2	MD			+	+				+
26	M	2	2	MD	+		+	+
27	M	2	20	DMD	+	+	+	+		+
28	M	3	3	MD	+		+
29	M	3	4	MD	+		+					+
30	M	3	6	MD	+		+							+
31	M	1	7	MD	+		+
32	M	1	2	MD	+		+	+	+
33	F	6	6	MD			+		+
34	M	5	6	MD	+		+	+
35	M	0.33	1	MD			+
36	M	3	6	MD	+		+	+	+
37	M	1	3	MD	+		+	+
38	M	2	8	MD	+		+
39	M	1	4	MD	+								+
40	M	7	13	DMD	+	+								+
41	M	2	6	MD	+		+	+
42	M	0.25	0.25	MD			+		+
43	M	2	14	DMD	+	+	+	+
44	M	1	1	MD			+		+
45	M	1	2	MD	+		+	+
46	M	1	1	MD			+
47	M	8	8	MD	+		+		+
48	M	1	5	MD	+		+
49	M	12	23	BMD	+		+	+					+
50	M	0.7	4	DMD	+		+	+			+		+
51	M	2	10	DMD	+			+					+

F female; M male; DMD Duchenne muscular dystrophy; BMD Becker muscular dystrophy; MD muscular dystrophy; + : The patient exhibits the symptom or has the corresponding condition

ISSN: 1755-8794