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Table 2
Alterations found.
Alteration	Nature of alteration	Status of	Location of	residue	Patient
		alteration¹	alteration		number
			bp

C->T; Gln-Stp	Causative	Known	5762	1852	01 & 01S
exon 39
Del 11 bases	Causative	Unknown	6056–6066	1950–1953	02
exon 41
Del exon 21	Causative	N/A			03
G->T; Splice	Causative	Unknown	738+1		04
destroyed ex6
C->T; Arg-	Causative	Unknown	3359	1051	07
>Stp exon 23
G->A Splice	Causative	Unknown	10015+5		08
destroyed 67
C->T;Arg-	Neutral	Known	6671	2155	03
>Trp ex45
G->A;Arg-	Neutral	Known	5442	1745	05,06,08
>His ex37
A->G;Gln-	Neutral	Known	9018	2937	05,06
>Arg ex59
C->T;Arg-	Neutral	Known	6779	2191	06
>Trp ex45
G->A;Gly-	Neutral	Known	2853	882	08
>Asp21 ex21
A->G;Arg-	Silent²	Unknown	1843	545	05,08
>Arg ex14
G->A;Ser-	Silent	Known	3229	1007	08
>Ser ex23
CC->GA	Intronic	Unknown	1040–18		04
before ex09
G->T before	Intronic	Unknown	1691–123		04,05
ex13
T->C before	Intronic	Unknown	1913–57		05,08
ex15
T->C before	Intronic	Unknown	6326–150		05
ex 43
G->T after	Intronic	Unknown	6822+25		06,08
ex45
T->C after	Intronic	Unknown	2376+17		06
ex17
10A's->8A's	Intronic	Unknown	6130+69		06,08
after ex41
T->C before	Intronic	Unknown	2377–96		08
ex18
C->T after	Polymorphic	Known	8235+11		03
ex54
G->A before	Polymorphic	Known	1691–110		04,05
ex13
C->G after	Polymorphic	Known	7408+53		04
ex49
T->C before	Polymorphic	Known	1691–72		05
ex13
A->T before	Polymorphic	Known	6326–63		05
ex43
C->T after	Polymorphic	Known	9857+15		06
ex66

¹Alterations were compared to Leiden Muscular Dystrophy pages http://www.dmd.nl/ webcite to determine if know or previously unknown. ²Potential splice site created.
Bennett et al. BMC Genetics 2001 2:17 doi:10.1186/1471-2156-2-17

Table 2