C5708T-F1

**Figure 1\. Pedigree diagram for family C5708T\-F1\.**

![](/media/202606/20260622162521720703.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5708 | m.5708C\>T | C5708T\-F1 | China | Myopathy | 0 | 1 | 2024 | [39175050](https://pubmed.ncbi.nlm.nih.gov/39175050/) |  |

The **m.5708C\>T** variant in 5708 was reported in family C5708T\-F1 from China with myopathy. The pedigree record reported 0 unaffected and 1 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 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 | 5708 | m.5708C\>T | C5708T\-F1 | C5708T\-F1\-II2 | Uninf | F | N | Y | D | 34 | / | 91\.6% | / | / | Myopathy |  |
| 2 | 5708 | m.5708C\>T | C5708T\-F1 | C5708T\-F1\-III1 | Fam | F | Y | Y | A | 15 | 80\.1% | / | 100% | 94\.8%(BM) | Myopathy |  |

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