G7497A-F3

**Figure 1\. Pedigree diagram for family G7497A\-F3\.**

![](/media/202607/G7497A-F3-pedigree_20260701032300487028.png#size=100%&align=left)

# 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\-F3 | Netherlands | Exercise intolerance, muscle pain, lactic acidaemia | 1 | 0 | 2003 | [14605505](https://pubmed.ncbi.nlm.nih.gov/14605505/) |  |

The **m.7497G\>A** variant in MT\-TS1 was reported in family G7497A\-F3 from Netherlands with exercise intolerance, muscle pain, lactic acidaemia. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was exercise intolerance, muscle pain, lactic acidaemia.

# 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\-F3 | G7497A\-F3\-I2 | Uninf | F | N | N | A | ND | 10% | / | / | / | Healthy |  |
| 2 | 7497 | m.7497G\>A | G7497A\-F3 | G7497A\-F3\-II1 | Fam | F | Y | Y | A | 13 | 90% | 100% | / | / | Exercise intolerance, muscle pain, lactic acidaemia |  |

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