Table 1 Data of enroled subjects.

From: Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients

Group

Patient (number)

Diagnosis

EcoRI fragment lenght

Sex

Clinical Severity score (CSS)

Age at biopsy (years)

Site of biopsy

STIR MRI signal

T1w MRI signal

Progression

Control muscles

CTRL#1

-

N/A

M

N/A

56

Vastus lateralis

N/A

N/A

N/A

CTRL#2

-

N/A

M

N/A

52

Vastus lateralis

N/A

N/A

N/A

CTRL#3

-

N/A

M

N/A

36

Vastus lateralis

N/A

N/A

N/A

CTRL#4

-

N/A

M

N/A

57

Vastus lateralis

N/A

N/A

N/A

CTRL#5

-

N/A

M

N/A

36

Vastus lateralis

N/A

N/A

N/A

CTRL#6

-

N/A

M

N/A

57

Vastus lateralis

N/A

N/A

N/A

CTRL#7

-

N/A

M

N/A

20

Vastus lateralis

N/A

N/A

N/A

CTRL#8

-

N/A

F

N/A

70

Vastus lateralis

N/A

N/A

N/A

CTRL#9

-

N/A

F

N/A

41

Vastus lateralis

N/A

N/A

N/A

FSHD STIR− muscles

FSHD#1

FSHD1

28

F

0

49

Vastus lateralis

NO

0

NO

FSHD#2

FSHD1

26

M

3.5

60

Vastus lateralis

NO

2

NO

FSHD#3

FSHD1

25

F

4

62

Vastus lateralis

NO

0

NO

FSHD#4

FSHD1

23

M

1

34

Vastus lateralis

NO

0

NO

FSHD#5

FSHD1

26

M

3

57

Vastus lateralis

NO

0

NO

FSHD#6

FSHD1

20

M

4.5

32

Gastrocnemius

NO

0

NO

FSHD#7

FSHD1

24

F

3

65

Vastus lateralis

NO

0

NO

FSHD#8

FSHD1

24

M

3

29

Gastrocnemius

NO

0

NO

FSHD#9

FSHD1

30

M

4

49

Vastus lateralis

NO

0

NO

FSHD#10

FSHD1

24

M

1

37

Semimebranous

NO

0

NO

FSHD#11

FSHD1

24

F

1.5

53

Vastus lateralis

NO

1

NO

FSHD#12

FSHD1

36

F

4

58

Vastus lateralis

NO

2

NO

FSHD#13

FSHD1

N/A

M

3

64

Vastus lateralis

NO

1

N/A

FSHD STIR+ muscles

FSHD#14

FSHD1

24

M

2.5

60

Vastus lateralis

YES

1

N/A

FSHD#15

FSHD1

17

F

4.5

33

Vastus lateralis

YES

1

YES

FSHD#16

FSHD1

22

M

3.5

47

Vastus lateralis

YES

2

N/A

FSHD#17

FSHD1

26

M

1

22

Gastrocnemius

YES

3

YES

FSHD#18

FSHD1

29/trisomic

M

1.5

70

Vastus lateralis

YES

2

YES

FSHD#19

FSHD1

27

M

2.5

34

Gastrocnemius

YES

1

YES

FSHD#20

FSHD1

27

M

2.5

27

Tibialis anterior

YES

0

N/A

FSHD#21

FSHD1

22

M

3.5

40

Gastrocnemius

YES

1

YES

FSHD#22

FSHD1

27

M

4

65

Gastrocnemius

YES

1

YES

FSHD#23

FSHD1

26

M

4

62

Vastus lateralis

YES

2

N/A

FSHD#24

FSHD1

20

M

4.5

32

Tibialis anterior

YES

1

YES

FSHD#25

FSHD1

18

F

3

29

Gastrocnemius

YES

0

YES

FSHD#26

FSHD1

38

M

1.5

24

Tibialis anterior

YES

0

YES

FSHD#27

FSHD1

21

M

4

56

Tibialis anterior

YES

2

N/A

  1. FSHD1 diagnosis was genetically confirmed by the presence of 3–9 KpnI D4Z4 repeats on the 4q35 chromosome. M male, F female, N/A not assessed. Progression was assessed at 1-year follow-up and reported as YES if there was an increase in T1w sequences since the time of biopsy, or NO if a worsening in T1w sequences was not registered.
Back to article page