A3280G-F2

**Figure 1\. Pedigree diagram for family A3280G\-F2\.**

![](/media/202606/20260630203726057300.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\-F2 | Spain | Muscle weakness, exercise intolerance, proximal muscle hypotrophy of limbs, non\-obstructive concentric left ventricular hypertrophy | 1 | 0 | 2003 | [12798797](https://pubmed.ncbi.nlm.nih.gov/12798797/) |  |

The **m.3280A\>G** variant in MT\-TL1 was reported in family A3280G\-F2 from Spain with muscle weakness, exercise intolerance, proximal muscle hypotrophy of limbs, non\-obstructive concentric left ventricular hypertrophy. 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 muscle weakness, exercise intolerance, proximal muscle hypotrophy of limbs, non\-obstructive concentric left ventricular hypertrophy.

# 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\-F2 | A3280G\-F2\-I2 | Uninf | F | N | N | A | ND | 15% | / | / | / | Healthy |  |
| 2 | 3280 | m.3280A\>G | A3280G\-F2 | A3280G\-F2\-II1 | Fam | M | Y | Y | A | 41 | 23% | 75% | / | / | Muscle weakness, exercise intolerance, proximal muscle hypotrophy of limbs, non\-obstructive concentric left ventricular hypertrophy |  |

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