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Table 1 Phenotypic features

From: Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I

 

Clinical Data

  

Patient

Diagnosis

Sex/Age

Age of onset

Onset mode

ALA

CK

MRI findings

Comorbidity

1

FKRP

F/44

08

PLE

Amb.

NA

  

2

FKRP

M/64

14

PLE

30

NA

diastolic dysfunction, myocardial fibrosis

HTN

3

FKRP

F/43

18

PLE

Amb.

4486

  

4

FKRP

F/20

10

PLE

Amb

NA

myocardial fibrosis

 

5

FKRP

M/11

3

PLE

Amb

8000

myocardial fibrosis

 

6

FKRP

M/58

48

PLE

Amb

NA

severe systolic dysfunction, myocardial fibrosis

HTN

7

FKRP+SGCA

F/24

12

PLE

Amb

2071

  

8

DYSF

M/49

30

DUE+PLE

Amb

3481

  

9

DYSF

M/43

17

DLE

28

7938

 

DM,HTN

10

DYSF

M/48

25

PLE

46

9468

diastolic dysfunction

DM,HTN

11

DYSF

M/51

03

PLE

Amb

280

diastolic dysfunction, myocardial fibrosis

DM,CAD

12

DYSF

M/47

6

PLE

43

428

diastolic dysfunction, myocardial fibrosis

 

13

DYSF

M/54

14

DLE

45

1911

diastolic dysfunction, myocardial fibrosis

HTN

14

DYSF

F/43

19

PLE

Amb

1234

 

HTN

15

DYSF

F/44

16

DLE

31

320

 

HTN

16

DYSF

F/33

19

PLE

Amb

3046

  
  1. FKRP, Fukutin-related protein; SGCA, alpha-Sarcoglycan gene; DYSF, dysferlin gene; CK, creatine kinase; DLE, distal lower extremity; DUE, distal upper extremity; PLE, proximal lower extremity; PUE, proximal upper extremity; ALA, age lost ambulation; Amb, ambulatory;HTN, hypertension; DM, diabetes mellitus, CAD, coronary artery disease; NA, no available.