T5709C-F1

**Figure 1\. Pedigree diagram for family T5709C\-F1\.**

![](/media/202606/20260622162852099675.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5709 | m.5709T\>C | T5709C\-F1 | Italy | Ophthalmoparesis, respiratory impairment | 0 | 2 | 2012 | [22189266](https://pubmed.ncbi.nlm.nih.gov/22189266/) |  |

The **m.5709T\>C** variant in 5709 was reported in family T5709C\-F1 from Italy with ophthalmoparesis, respiratory impairment. The pedigree record reported 0 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 sarcoidosis, ophthalmoparesis, respiratory impairment.

# 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 | 5709 | m.5709T\>C | T5709C\-F1 | T5709C\-F1\-I2 | Uninf | F | N | Y | A | ND | / | / | / | / | Sarcoidosis, ophthalmoparesis |  |
| 2 | 5709 | m.5709T\>C | T5709C\-F1 | T5709C\-F1\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | Sarcoidosis, ophthalmoparesis |  |
| 3 | 5709 | m.5709T\>C | T5709C\-F1 | T5709C\-F1\-III1 | Fam | F | Y | Y | A | 47 | 21\.7% | 89% | / | / | Ophthalmoparesis, respiratory impairment |  |

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