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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