Clinical and molecular data in sarcoglycanopathy patients
| Sarcoglycan immunolabelling | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient No | Sex | Family history | Age of onset (y) | Clinical phenotype | Cardiac involvement | α | β | γ | δ | α-sarcoglycan immunoblotting (%) | Genomic variation | Mutated sarcoglycan exon | Protein alteration | Protein domain |
| DCM, dilated cardiomyopathy; PTC, premature termination codon. | ||||||||||||||
| *Doublet band. | ||||||||||||||
| †Consanguineous parents. | ||||||||||||||
| WCB, wheelchair bound. ND, not determined; –-- : absent; +–- : severe reduction; ++– : moderate reduction; +++- : mild reduction; ++++ : normal labelling. | ||||||||||||||
| α-sarcoglycanopathy | ||||||||||||||
| 1 | F | - | 4 | DMD-like | ND | –-- | –-- | –-- | –-- | 0 | IVS5 −1delG/−2 A>T | 6 | PTC+3aa | Extracellular |
| (2668) | (WCB 12 y) | (homo) | ||||||||||||
| 2 | M | - | 4 | LGMD | ND | +++- | ++++ | ++++ | ++++ | 40* | 421 C>A | 4 | R141S | Extracellular |
| (5298) | (WCB 36 y) | |||||||||||||
| 3 | M | - | 8 | Calf hypertrophy | - | ++– | +++- | +++- | ++– | 40* | 541 C>T | 5 | R181C | Extracellular |
| (5262) | 86insA | 2 | PTC+14aa | Extracellular | ||||||||||
| 4 | F | - | 10 | LGMD | - | +–- | +++- | ++++ | ++++ | 20 | 229 C>T | 3 | R77C | Extracellular |
| (5321) | 850 C>T | 7 | R284C | Extracellular | ||||||||||
| 5 | F | - | 10 | LGMD | ND | +–- | +–- | ++– | ++– | 0 | 293 G>A | 3 | R98H | Extracellular |
| (5893) | (homo) | |||||||||||||
| 6 | F | + | 11 | LGMD | - | +–- | +–- | +–- | +–- | 10 | 850 C>T | 7 | R284C | Extracellular |
| (2786) | (WCB 28 y) | |||||||||||||
| 7 | M | + | 14 | Calf hypertrophy | ND | +–- | ++– | ++– | ++– | 5 | 662 G>A | 6 | R221H | Extracellular |
| (5004) | ||||||||||||||
| β-sarcoglycanopathy | ||||||||||||||
| 8† | M | - | 7 | LGMD/DCM | + | +–- | +–- | +–- | +–- | 10 | –22+10dup | 1 | PTC+25aa | Cytoplasmic |
| (1065) | (homo) | |||||||||||||
| γ-sarcoglycanopathy | ||||||||||||||
| 9 | F | + | 4 | DMD-like | - | ++– | ++– | –-- | ++++ | 10 | 848 G>A | 8 | C283T | Extracellular |
| (2439) | (homo) | |||||||||||||
| 10 | F | - | 7 | Calf hypertrophy | - | ++– | +–- | –-- | ++– | 5 | 128 T>G | 2 | L43X | Transmembrane |
| (2736) | 517delT | 6 | PTC+19aa | Extracellular | ||||||||||
| 11 | F | adopted | 4 | DMD-like/DCM | + | +–- | +++- | –-- | ++++ | 5 | 87insT | 2 | PTC+28aa | Cytoplasmic |
| (1654) | (WCB 9 y) | |||||||||||||
| δ-sarcoglycanopathy | ||||||||||||||
| 12† | F | + | 4 | DMD-like | ND | +–- | +–- | +–- | +–- | 10 | 593 G>C | 7 | R198P | Extracellular |
| (4480) | (WCB 13 y) | (homo) | ||||||||||||