G7497A-F2

**Figure 1\. Pedigree diagram for family G7497A\-F2\.**

![](/media/202606/20260622184258788439.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7497 | m.7497G\>A | G7497A\-F2 | Germany | Myopathy | 3 | 2 | 1998 | [9778262](https://pubmed.ncbi.nlm.nih.gov/9778262/) |  |

The **m.7497G\>A** variant in MT\-TS1 was reported in family G7497A\-F2 from Germany with myopathy. The pedigree record reported 3 unaffected and 2 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 3/6 carriers were affected, and the main clinical manifestation among affected carriers was myopathy, myalgia.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-I2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 2 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-II2 | Fam | M | N | Y | A | 26 | / | / | / | / | Myopathy |  |
| 3 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-II3 | Fam | M | N | N | A | ND | 70% | / | / | / | Healthy |  |
| 4 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-II4 | Fam | F | Y | Y | A | 30 | / | 100% | / | / | Myopathy |  |
| 5 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-III7 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 7497 | m.7497G\>A | G7497A\-F2 | G7497A\-F2\-III8 | Fam | F | N | Y | A | 20 | 90% | / | / | / | Myalgia |  |

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