A3280G-F1

**Figure 1\. Pedigree diagram for family A3280G\-F1\.**

![](/media/202606/20260630203702754693.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3280 | m.3280A\>G | A3280G\-F1 | France | Mild muscle weakness, severe exercise intolerance, acute cardiac insufficiency | ND | ND | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) |  |

The **m.3280A\>G** variant in MT\-TL1 was reported in family A3280G\-F1 from France with mild muscle weakness, severe exercise intolerance, acute cardiac insufficiency. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was mild muscle weakness, severe exercise intolerance, acute cardiac insufficiency, muscle weakness.

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 | 3280 | m.3280A\>G | A3280G\-F1 | A3280G\-F1\-I2 | Uninf | F | Y | Y | A | 30 | / | / | / | / | Mild muscle weakness, severe exercise intolerance, acute cardiac insufficiency |  |
| 2 | 3280 | m.3280A\>G | A3280G\-F1 | A3280G\-F1\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | Muscle weakness |  |

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