T3250C-F6

**Figure 1\. Pedigree diagram for family T3250C\-F6\.**

![](/media/202606/20260630205814298570.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3250 | m.3250T\>C | T3250C\-F6 | USA | Cardiomyopathy | 1 | 1 | 2021 | [33259687](https://pubmed.ncbi.nlm.nih.gov/33259687/) |  |

The **m.3250T\>C** variant in MT\-TL1 was reported in family T3250C\-F6 from USA with cardiomyopathy. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was cardiomyopathy.

# 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 | 3250 | m.3250T\>C | T3250C\-F6 | T3250C\-F6\-IV3 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 2 | 3250 | m.3250T\>C | T3250C\-F6 | T3250C\-F6\-V1 | Fam | F | Y | Y | A | ND | 100% | / | / | / | Cardiomyopathy |  |
| 3 | 3250 | m.3250T\>C | T3250C\-F6 | T3250C\-F6\-V2 | Fam | M | N | Y | D | ND | / | / | / | / | Cardiomyopathy |  |

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