Table 1 Baseline clinical characteristics, genotype, severity of symptoms in patients with limb-girdle muscular dystrophy type 2A
From: Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy
Patient | Age at presentation | Gender | Mutation | Walking ability | Scapular winging | Joint contraction | Co-morbidities | Family history | Serum CK |
|---|---|---|---|---|---|---|---|---|---|
1 | 25 | ♀ | HE*, Exon 21: c.2242C>T | Ambulant | Bilateral | Achilles | No | Yes | 32 |
2 | 48 | ♂ | HE*, Exon 21: c.2242C>T | Ambulant | Bilateral | Achilles | No | No | 7 |
3 | 55 | ♀ | CH, Exon 04: c.550delA Exon 20: c.2162G>A | Ambulant | No | No | No | No | 14 |
4 | 32 | ♀ | HO, Exon 04: c.550delA | Ambulant | Bilateral | Achilles | No | No | 9 |
5 | 28 | ♂ | CH, Exon 04: c.550delA Exon17: c.1992+1G>T | Wheelchair- bounded | Bilateral | Achilles | No | Yes | 17 |
6 | 25 | ♀ | CH, Exon 04: c.550delA Exon 24: c.2440-3C>G | Wheelchair- bounded | Bilateral | Achilles | No | No | 22 |
7 | 51 | ♀ | HO,Exon11:c.1524+3C>G | Wheelchair-bounded | Bilateral | Achilles | AFIB | No | 5 |
8 | 31 | ♂ | CH,Exon:04:c.del598_612 Exon 10: c.1303G>A | Ambulant | No | No | No | Yes | 54 |
9 | 23 | ♀ | CH, Exon 04: c.550delA Exon 17: c.1992+1G>T | Ambulant | Bilateral | Achilles | No | Yes | 24 |
10 | 27 | ♂ | HO,Exon 04: c.550delA | Ambulant | No | No | No | No | 8 |
11 | 55 | ♀ | HE*, Exon 04: c.550delA | Ambulant | No | No | No | No | 10 |