TABLE 2.

Clinical and molecular characterization of novel DMD mutations

Clinical characteristics									Results
No	USMP code	Sex	Age	CPK (U/L)	Electromyography	Ambulation	Other family	S Molecular tests		Type of mutation	Exon affected	HGNC name variant	Protein	Phenotype
1	DMD‐10	M	9.0	N.A.	N.A.	NO	YES	NGS		Frameshift deletion	Exon 43	c.6253 delT	p.Try2085Glyfs*28	DMD
2	DMD‐34	M	7.0	9525	N.A.	YES	NO	NGS		Nonsense	Exon 34	c.4840G>T	p.Gly1614*	DMD
3	DMD‐36	M	8.0	4312	N.A.	YES	NO	NGS		Nonsense	Exon 22	c.2945T>A	p.Leu982*	DMD
4	DMD‐43	M	6.0	34733	N.A.	YES	YES	NGS		Frameshift deletion	Exon 52	c.7618_7619 delAA	p.Lys2540Aspfs*7	DMD
5	DMD‐44	M	6.0	8396	Positive	NO	YES	NGS		Nonsense	Exon 26	c.3490A>T	p.Gln1163*	DMD
6	DMD‐60	M	8.0	Elevated	N.A.	N.A.	YES	NGS		Frameshift deletion	Exon 74	c.10409delT	p.Leu3470Cysfs*1	DMD
7	DMD‐64	M	20.0	5166	Positive	NO	NO	MLPA		Deletion	Exons 14–48	c.1603‐?_7098+?del	p.?	BMD
8	DMD‐77	M	14.0	29560	Positive	YES	NO	MLPA		Deletion	Exons 58–79	c.8548‐?_*2691del	p.?	DMD
9	DMD‐80	M	12.0	1470	Positive	NO	YES	MLPA		Deletion	Dp427c‐Exon 29	c.−128297_4071+?del	p.?	DMD
10	DMD‐123	M	11.0	N.A.	N.A.	NO	N.A.	NGS		Nonsense	Exon 19	c.2348 C>G	p.Ser783*	DMD
11	DMD‐125	M	4.0	27528	N.A.	YES	NO	MLPA		Nonsense	Exon 41	c.5812 G>T	p.Glu1938*	DMD
12	DMD‐126	M	8.8	18080	N.A.	YES	N.A.	NGS		Frameshift deletion	Exon 8	c.803delT	p.Leu268Tryfs*14	DMD
13	DMD‐127	M	6.0	15113	N.A.	YES	N.A.	NGS		Frameshift deletion	Exon 14	c.1672delC	p.Leu558Phefs*13	DMD
14	DMD‐140	M	8.0	Elevated	Positive	YES	N.A.	MLPA		Duplication	Exons 43–52	c.6118‐?_7660+?dup	p.?	DMD
15	DMD‐141	M	11.0	9038	N.A.	NO	NO	NGS		Nonsense	Exon 53	c.7768G>T	p.Glu2590*	DMD
16	DMD‐154	M	7.0	11899	Positive	YES	NO	MLPA		Duplication	Exons 12–43 and 49–52	c.(1332‐?_6290+?dup; 7099‐?_7660+?dup)	p.?	DMD
17	DMD‐166	M	6.0	11,000	Positive	YES	NO	NGS		Splicesite	Intron 33	c.4675‐1G>A	p.?	DMD
18	DMD‐170	M	7.0	22377	N.A.	YES	NO	NGS		Frameshift deletion	Exon 2	c.44delA	p.Asp15Valfs*10	DMD
19	DMD‐184	M	11.1	N.A.	N.A.	NO	N.A.	MLPA		Frameshift insertion	Exon 3	c.131insT	p.Leu44Leufs*44	DMD
20	DMD‐199	M	5.0	18467	N.A.	N.A.	NO	MLPA		Deletion	Exons 45–62	c.6439‐?_9224+?del	p.?	DMD