G5650A-F2

**Figure 1\. Pedigree diagram for family G5650A\-F2\.**

![](/media/202606/20260625140410832830.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5650 | m.5650G\>A | G5650A\-F2 | UK | Myopathy | ND | 2 | 2008 | [17825557](https://pubmed.ncbi.nlm.nih.gov/17825557/) |  |

The **m.5650G\>A** variant in MT\-TA was reported in family G5650A\-F2 from UK with myopathy. The pedigree record reported ND unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was endured increasing difficulty with inclines and stairs, variable symptoms of fatigue, some progressive difficulty in rising from a squat.

# 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 | 5650 | m.5650G\>A | G5650A\-F2 | G5650A\-F2\-P1 | Fam | F | Y | Y | A | 11 | \>95% | \>95% | \>95% | \>95% (Buccal epithelial cells); 10% (H) | Endured increasing difficulty with inclines and stairs |  |
| 2 | 5650 | m.5650G\>A | G5650A\-F2 | G5650A\-F2\-P2 | Fam | F | N | Y | A | 42 | \>96% | \>96% | \>96% | / | Variable symptoms of fatigue |  |
| 3 | 5650 | m.5650G\>A | G5650A\-F2 | G5650A\-F2\-P3 | Uninf | F | N | Y | A | 63 | / | / | 2% | / | Some progressive difficulty in rising from a squat |  |

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