Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000070.3:c.956C>T | 1 | |||
| NM_000070.2:c.257C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253600.2.1 | Lebanon | Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy | Female | Yes | No | |
| 253600.2.3 | Lebanon | Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Calf muscle hypertrophy | Male | Yes | Yes | cousin of patient 253600.2.1. |
| 253600.2.4 | Lebanon | Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy | Male | Yes | Yes | cousin of patient 253600.2.1. |
| 253600.2.5 | Lebanon | Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy | Male | Yes | No | Second cousin of patient 253600.2.1. |
| 253600.2.G.1 | Lebanon | No | Healthy subjects related to patients with ID 253600.2 | |||
| 253600.2.G.2 | Lebanon | Elevated circulating creatine kinase concentration | Yes | 7 unaffected relatives of 253600.2 who exhibited elevated serum creatine kinase. |