T5814C-F4

**Figure 1\. Pedigree diagram for family T5814C\-F4\.**

![](/media/202606/20260622115926749959.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5814 | m.5814T\>C | T5814C\-F4 | France | Intolerance to exercise | 3 | 0 | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) |  |

The **m.5814T\>C** variant in MT\-TC was reported in family T5814C\-F4 from France with intolerance to exercise. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 0/4 carriers were affected, and the main clinical manifestation among affected carriers was not available.

# 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 | 5814 | m.5814T\>C | T5814C\-F4 | T5814C\-F4\-I1 | Fam | F | Y | N | A | 55 | / | Homo | / | / | Intolerance to exercise |  |
| 2 | 5814 | m.5814T\>C | T5814C\-F4 | T5814C\-F4\-I2 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 5814 | m.5814T\>C | T5814C\-F4 | T5814C\-F4\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 5814 | m.5814T\>C | T5814C\-F4 | T5814C\-F4\-II2 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |

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