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Table 2 Alterations found.

From: Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

Alteration

Nature of alteration

Status of alteration

Location of alteration

residue

Patient number

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

     
  1. 1Alterations were compared to Leiden Muscular Dystrophy pages http://www.dmd.nl/ to determine if know or previously unknown. 2Potential splice site created.