T3273C-F1

**Figure 1\. Pedigree diagram for family T3273C\-F1\.**

![](/media/202606/20260630210540268542.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3273 | m.3273T\>C | T3273C\-F1 | Spain | Ocular myopathy | 4 | 0 | 2001 | [11404120](https://pubmed.ncbi.nlm.nih.gov/11404120/) |  |

The **m.3273T\>C** variant in MT\-TL1 was reported in family T3273C\-F1 from Spain with ocular myopathy. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was ocular myopathy.

# 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 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-I2 | Uninf | F | N | N | A | 79 | \<1% | / | / | / | Healthy |  |
| 2 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-II1 | Fam | M | N | N | A | ND | \<1% | / | / | / | Healthy |  |
| 3 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-II2 | Fam | F | Y | Y | A | 40 | 2% | 88% | / | 3% (F), \<1% (Subcutaneous fat) | Ocular myopathy |  |
| 4 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-III1 | Fam | M | N | N | A | ND | \<1% | / | / | / | Healthy |  |
| 5 | 3273 | m.3273T\>C | T3273C\-F1 | T3273C\-F1\-III2 | Fam | F | N | N | A | ND | \<1% | / | / | / | Healthy |  |

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