Table 1 Clinical data of probands
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;Â LL: proximal, mild distal | No | + | Ankle | 2375 | Myopathic | Lordosis |
3/M | 29/19 | Dysferlinopathy | DYSF | Ambulant;Â LL: mild proximal, distal | No | + | Ankle | 4032 | Myopathic | Â |
4/F | 9/8 | LGMD 2C | SGCG | Ambulant;Â LL: proximal, mild distal | Present | + | No | 15,025 | NA | Â |
5/F | 34/21 | Dysferlinopathy | DYSF | Ambulant;Â LL: proximal, distal | No | + | No | 4777 | Myopathic | Lordosis |
6/F | 24/16 | Dysferlinopathy | DYSF | Ambulant;Â LL: proximal, distal | No | + | Ankle | 8720 | Myopathic | Â |
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;Â UL: proximal;Â LL: proximal | No | + | NA | 17,690 | NA | Lordosis |
11/M | 11/6 | LGMD 2I | FKRP | Ambulant;Â 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;Â LL: mild proximal, distal | No | + | No | 17,139 | Myopathic | Â |
14/F | 22/20 | Dysferlinopathy | DYSF | Ambulant;Â LL: mild proximal | No | + | No | 8179 | Myopathic | Six fingers in both hands |
15/F | 8/3 | LGMD 2D | SGCA | Ambulant;Â LL: proximal, mild distal | No | + | No | 58,378 | Myopathic | Â |
16/M | 13/13 | Dysferlinopathy | DYSF | Ambulant;Â 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;Â LL: proximal | Mild | + | No | 1406 | NA | Lordosis |
20/F | 3/2 | LGMD 1B | LMNA | Ambulant;Â LL: proximal | No | + | Ankle | 1311 | Myopathic | Lordosis |
21/F | 35/25 | LGMD 2I | FKRP | Ambulant;Â UL: mild proximal;Â 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;Â LL: proximal, mild distal | Present | + | No | 18,915 | NA | Delayed language development |
24/F | 28/13 | LGMD 2A | CAPN | Ambulant; difficulty in raising arms;Â UL: proximal;Â LL: proximal, mild distal | Mild | NA | NA | NA | Myopathic | Lordosis |