C3303T-F4

**Figure 1\. Pedigree diagram for family C3303T\-F4\.**

![](/media/202606/20260630205229023266.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\-F4 | Australia | Proximal limb and neck weakness, cardiac dysfunction | 3 | 0 | 1999 | [10431114](https://pubmed.ncbi.nlm.nih.gov/10431114/) |  |

The **m.3303C\>T** variant in MT\-TL1 was reported in family C3303T\-F4 from Australia with proximal limb and neck weakness, cardiac dysfunction. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was proximal limb and neck weakness, cardiac dysfunction.

# 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\-F4 | C3303T\-F4\-I2 | Uninf | F | N | N | A | ND | 58% | / | / | / | Healthy |  |
| 2 | 3303 | m.3303C\>T | C3303T\-F4 | C3303T\-F4\-II1 | Fam | M | Y | Y | A | 3 | / | 97% | / | 92% (F) | Proximal limb and neck weakness, cardiac dysfunction |  |
| 3 | 3303 | m.3303C\>T | C3303T\-F4 | C3303T\-F4\-II2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 3303 | m.3303C\>T | C3303T\-F4 | C3303T\-F4\-II3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |

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