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Table 1 Clinical data of probands

From: The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Proband/Gender

Age of last review/onset (y)

Phenotype

Pathogenic gene

Motor function/muscle weakness

Hypertrophy of calves

Tendon reflex

Join contracture

CK (U/L)

EMG

Other

1/M

44/18

LGMD 2A

CAPN3

Nonambulant at 40y; difficulty in raising arms at 22y; UL: proximal; LL: proximal

No

NA

424

Myopathic

Hypertension in all patients of the family

2/F

23/17

LGMD 2A?

CAPN3?

Ambulant; LL: proximal, mild distal

No

+

Ankle

2375

Myopathic

Lordosis

3/M

29/19

Dysferlinopathy

DYSF

Ambulant; LL: mild proximal, distal

No

+

Ankle

4032

Myopathic

 

4/F

9/8

LGMD 2C

SGCG

Ambulant; LL: proximal, mild distal

Present

+

No

15,025

NA

 

5/F

34/21

Dysferlinopathy

DYSF

Ambulant; LL: proximal, distal

No

+

No

4777

Myopathic

Lordosis

6/F

24/16

Dysferlinopathy

DYSF

Ambulant; LL: proximal, distal

No

+

Ankle

8720

Myopathic

 

7/M

30/8

LGMD 2C

SGCG

Nonambulant at 21y; difficulty in raising arms at 22y; UL: proximal; LL: proximal

No

No

3200

NA

 

8/F

37/29

Dysferlinopathy

DYSF

Ambulant; difficulty in raising arms at 35y; UL: proximal; LL: proximal, distal

No

No

6606

Myopathic

 

9/F

25/15

LGMD 2A

CAPN3

Ambulant; difficulty in raising arms at 25y; UL: proximal; LL: proximal, distal

No

Ankle

2819

NA

Lordosis

10/F

12/10

LGMD 2D

SGCA

Ambulant; difficulty in raising arms at 11y; UL: proximal; LL: proximal

No

+

NA

17,690

NA

Lordosis

11/M

11/6

LGMD 2I

FKRP

Ambulant; LL: mild proximal

Mild

+

No

8610

NA

Hypermobility of metacarpophalangeal joints

12/M

12/6

Early onset recessive Emery-Dreifuss-like phenotype without cardiomyopathy

TTN

Ambulant; UL: mild proximal; LL: mild proximal, distal

No

+

Neck, ankle

378

Normal

Cavus feet, Morton’s toe, tongue hypertrophy, winged shoulder

13/M

21/16

Dysferlinopathy

DYSF

Ambulant; LL: mild proximal, distal

No

+

No

17,139

Myopathic

 

14/F

22/20

Dysferlinopathy

DYSF

Ambulant; LL: mild proximal

No

+

No

8179

Myopathic

Six fingers in both hands

15/F

8/3

LGMD 2D

SGCA

Ambulant; LL: proximal, mild distal

No

+

No

58,378

Myopathic

 

16/M

13/13

Dysferlinopathy

DYSF

Ambulant; LL: mild proximal, mild distal

No

++

No

32,093

Normal

Patent foramen ovale

17/F

14/3

LGMD 2F

SGCD

Nonambulant at 12y; difficulty in raising arms at 13y; UL: proximal; LL: proximal, mild distal

Present

Ankle

1748

Myopathic

Hypermobility of interphalangeal, metacarpophalangeal and elbow joints

18/F

7/2

LGMD 1B

LMNA

Ambulant; LL: proximal

No

Ankle

1806

Myopathic

Hypermobility of interphalangeal and metacarpophalangeal joints

19/M

3/1.5

LGMD 1B

LMNA

Ambulant; LL: proximal

Mild

+

No

1406

NA

Lordosis

20/F

3/2

LGMD 1B

LMNA

Ambulant; LL: proximal

No

+

Ankle

1311

Myopathic

Lordosis

21/F

35/25

LGMD 2I

FKRP

Ambulant; UL: mild proximal; LL: proximal, mild distal

NA

+

No

420

Myopathic

Lordosis

22/M

23/13

LGMD 2C

SGCG

Nonambulant at 22y; difficulty in raising arms at 20y; UL: proximal; LL: proximal

Mild

No

2700-5000

Myopathic

 

23/M

7/2.5

LGMD 2F

SGCD

Ambulant; LL: proximal, mild distal

Present

+

No

18,915

NA

Delayed language development

24/F

28/13

LGMD 2A

CAPN

Ambulant; difficulty in raising arms; UL: proximal; LL: proximal, mild distal

Mild

NA

NA

NA

Myopathic

Lordosis

  1. M male, F female, UL upper limbs, LL lower limbs, NA not available, EMG electromyography, ++ normal tendon reflex, + decreased tendon reflex, – absent tendon reflex