Table 1 Muscle, myoblast, CD56− cells, skin fibroblast and blood samples from healthy controls and LGMDR1 patients

Muscle samples

27

Control

Male

Quadriceps

50

–

–

–

31

Control

Male

Quadriceps

46

–

–

–

33

Control

Male

Deltoid

51

–

–

–

22–09

Control

Male

Deltoid

47

–

–

–

05

LGMDR1

Male

Deltoid

13

Pseudo-Asympt

p.(Arg788SerfsX14)

p.(Arg788SerfsX14)

09

LGMDR1

Female

Biceps

14

Pseudo-Asympt

p.(Arg490Trp)

p.(Gly691TrpfsX7)

07–109

LGMDR1

Male

*

10

Pseudo-Asympt

p.(Arg698Gly)

p.(Arg748Glu)

36**

LGMDR1

Male

Quadriceps

26

Ambulant

p.(Lys254Glu)

p.(Pro637HisfsX25)

B10-61

LGMDR1

Female

Quadriceps

23

Ambulant

p.(Pro22Glnfs*35)

p.(Lys211_Glu323del)

B09-26

LGMDR1

Female

Quadriceps

48

Non-ambulant

p.(Arg489Tyr)

p.(Arg788Ser)

19–22

LGMDR1

Female

Deltoid

25

Ambulant

p.(Arg788SerfsX14)

Complete gene deletion

Myoblast/Myotubes and CD56− cells samples

09–23

Control

Male

Triceps

26

–

–

–

10–36

Control

Male

Biceps

23

–

–

–

13–05

Control

Male

Quadriceps

14

–

–

–

13–07

Control

Female

Biceps

36

–

–

–

13–09

Control

Male

Quadriceps

37

–

–

–

15–12

Control

Male

Deltoid

36

–

–

–

09–21

LGMDR1

Male

Biceps

19

Ambulant

p.(His690ArgfsX9)

p.(His690ArgfsX9)

09–24

LGMDR1

Female

Deltoid

47

Non-ambulant

p.(Arg788SerfsX14)

p.(Lys595ValfsX70)

09–25

LGMDR1

Male

Deltoid

28

Ambulant

p.(Lys254Glu)

p.(Pro637HisfsX25)

10–39

LGMDR1

Male

Deltoid

29

Non-ambulant

p.(Lys254del)

p.(X822Leuext62X)

10–61

LGMDR1

Female

Quadriceps

23

Ambulant

p.(Pro22Glnfs*35)

p.(Lys211_Glu323del)

Skin fibroblasts

C19

Control

*

Skin

–

–

–

C21

Control

*

Skin

–

–

–

P1

LGMDR1

Female

Skin

47

Non-ambulant

p.(Arg788SerfsX14)

c.1782 + 1072G > C

P2

LGMDR1

Female

Skin

46

Non-ambulant

p.(Arg788SerfsX14)

p.(Arg788SerfsX14)

P23

LGMDR1

Male

Skin

15

Unknown

p.(Arg788SerfsX14)

p.(Arg788SerfsX14)

Peripheral blood

AnA

Control

Female

Blood

33

–

–

–

AiA

Control

Female

Blood

34

–

–

–

AnG

Control

Female

Blood

33

–

–

–

LeC

Control

Female

Blood

26

–

–

–

PiC

Control

Female

Blood

32

–

–

–

94–121.1

LGMDR1

Male

Blood

32

Ambulant

p.(Gly222Arg)

p.(Arg788SerfsX14)

96–137

LGMDR1

Male

Blood

61

Non-ambulant

p.(Arg788SerfsX14)

p.(Arg788SerfsX14)

97–21.1

LGMDR1

Female

Blood

50

Non-ambulant

p.(Arg788SerfsX14)

p.(Arg788SerfsX14)

98–304

LGMDR1

Male

Blood

24

Ambulant

p.(Arg788SerfsX14)

p.(Arg788SerfsX14)

02–11.3

LGMDR1

Male

Blood

*

Ambulant

p.(Arg788SerfsX14)

p.(Arg788SerfsX14)