C3303T-F6

**Figure 1\. Pedigree diagram for family C3303T\-F6\.**

![](/media/202606/20260630205313753531.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3303 | m.3303C\>T | C3303T\-F6 | Japan | Infantile cardiomyopathy, skeletal myopathy, cardiomyopathy | 3 | 1 | 1999 | [10431114](https://pubmed.ncbi.nlm.nih.gov/10431114/) |  |

The **m.3303C\>T** variant in MT\-TL1 was reported in family C3303T\-F6 from Japan with infantile cardiomyopathy, skeletal myopathy, cardiomyopathy. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was cardiomyopathy, skeletal 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 | 3303 | m.3303C\>T | C3303T\-F6 | C3303T\-F6\-I2 | Uninf | F | N | N | A | 48 | / | / | / | / | Healthy |  |
| 2 | 3303 | m.3303C\>T | C3303T\-F6 | C3303T\-F6\-II1 | Fam | M | N | N | A | 28 | / | / | / | / | Healthy |  |
| 3 | 3303 | m.3303C\>T | C3303T\-F6 | C3303T\-F6\-II2 | Fam | F | N | N | A | 25 | / | / | / | / | Healthy |  |
| 4 | 3303 | m.3303C\>T | C3303T\-F6 | C3303T\-F6\-II3 | Fam | F | N | Y | D | 7 months | / | / | / | / | Cardiomyopathy |  |
| 5 | 3303 | m.3303C\>T | C3303T\-F6 | C3303T\-F6\-II4 | Fam | F | Y | Y | D | 3 months | / | 35% | / | \>98% (Heart) | Skeletal myopathy, cardiomyopathy |  |

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