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Table 3 MRI findings in five MFM patients with an identified mutation

From: Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies

 

Fischer et al. 2008

Current study

Gene

DES

FLNC

MYOT

ZASP*

DES

FLNC

MYOT

ZASP

Patient

    

F1.III.1

F2.III.4

F7.III.4

F10.1

F12.III.3

Pelvic level

         

Gluteus maximus

2,3

1,3

2

3

3

np

1

np

np

Gluteus medius

1,8

1,7

2,8

1

1

np

1

np

np

Gluteus minimus

1,8

1,7

3,3

3

3

np

1

np

np

Mid thigh level

         

Vastus lateralis

1,2

1,2

1,6

2

3

1

2

1

1

Vastus intermedius

1,2

2,8

2,8

3

4

1

3

1

1

Vastus medialis

1,3

2,3

2,8

3

4

1

3

1

1

Rectus femoris

1,3

0,4

0,1

2

1

1

2

1

1

Sartorius

2,8

0,7

1,5

1

4

3

1

2

1

Gracilis

2,2

0,6

0,4

1

3

3

1

1

1

Biceps femoris

1,5

3,3

2,9

4

1

1

3

3

3

Adductor magnus

1,7

3,2

3,2

4

3

1

3

3

2

Semitendinosus

3,1

1,8

1,2

3

3

3

3

2

1

Semimembranosus

1,5

3,3

2,8

4

2

1

3

2

3

Mid leg level

         

Tibialis anterior

1,9

2,8

3,1

3

3

2

0

1

3

Peroneal muscle group

3

2,7

2,8

3

2

4

1

1

2

Medial gastrocnemius

2

3

3,4

3

2

3

3

4

4

Lateral gastrocnemius

2,1

0,9

2,1

3

2

3

1

3

4

Soleus

2,2

3,6

3,9

4

4

2

3

3

4

  1. 5-point scale according to Fischer et al. 2008 [51]: stage 0 is referred to a normal muscle appearance; stage 1 means traces of increased signal intensity on the T1-weighted MR sequences; stage 2 refers to increased signal intensity on MRI in less than 50% of the muscle; stage 3 means an increased signal intensity on MRI in more than 50% of the muscle; stage 4 indicates an increased signal intensity on MRI in the entire muscle (end-stage disease); *, ZASP classification is based on Figure four in the study of Fischer et al. 2008; np, not performed; for abbreviations of genes see text.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172