Table 4 Dysferlin mutations in Swiss patients

A-1

ex12

c.1064_1065delAA

p.Lys355ArgfsX4

ex23

c.2217C>A

p.Tyr739X

A-2

ex12

c.1064_1065delAA

p.Lys355ArgfsX4

ex23

c.2217C>A

p.Tyr739X

B-3

ex12

c.1064/1065delAA

p.Lys355ArgfsX4

ex25-27

Deletion exon 25-27

C-4

IVS28

c. 3031 + 2T>C

Abn. Spli.

IVS28

c. 3031 + 2T>C

Abn. Spli.

C-5

IVS28

c. 3031 + 2T>C

Abn. Spli.

IVS28

c. 3031 + 2T>C

Abn. Spli.

C-6

IVS28

c. 3031 + 2T>C

Abn. Spli.

ex27

c. 2869C>T

p.Gln957X

C-7

IVS28

c. 3031 + 2T>C

Abn. Spli.

IVS28

c. 3031 + 2T>C

Abn. Spli.

C-8

IVS28

c.3031 + 2T>C

Abn. Spli

IVS28

c.3031 + 2T>C

Abn. Spli

D-9

IVS28

c. 3031 + 2T>C

Abn. Spli.

IVS28

c. 3031 + 2T>C

Abn. Spli.

D-10

IVS28

c. 3031 + 2T>C

Abn. Spli.

IVS28

c. 3031 + 2T>C

Abn. Spli.

D-11

IVS28

c. 3031 + 2T>C

Abn. Spli.

IVS28

c. 3031 + 2T>C

Abn. Spli.

E-13

Ex53

c.5928G>A

p.Trp1976Stop

Ex53

c.5928G>A

p.Trp1976Stop

F-13

IVS28

c. 3031 + 2T>C

Abn. Spli.

IVS28

c. 3031 + 2T>C

Abn. Spli.