C3303T-F1

**Figure 1\. Pedigree diagram for family C3303T\-F1\.**

![](/media/202607/20260721234408178802.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\-F1 | USA | Cardiomyopathy | 7 | 6 | 1994 | [7906985](https://pubmed.ncbi.nlm.nih.gov/7906985/) |  |

The **m.3303C\>T** variant in MT\-TL1 was reported in family C3303T\-F1 from USA with cardiomyopathy. The pedigree record reported 7 unaffected and 6 affected maternal relatives, and the carrier table includes 15 listed carriers. Homoplasmy was reported in 2/15 listed carriers; 7/15 carriers were affected, and the main clinical manifestation among affected carriers was myocardial infarction, cardiomyopathy, exercise interolance, premature fatigue, sudden infant death, congestive heart failur, muscle hypotonia, lactic acidosis.

# 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\-F1 | C3303T\-F1\-I1 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 2 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-II1 | Fam | F | N | N | D | 50 | / | / | / | / | Healthy |  |
| 3 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-II3 | Fam | M | N | Y | D | 17 | / | / | / | / | Myocardial infarction |  |
| 4 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-III2 | Fam | M | N | Y | D | 50 | / | / | / | / | Cardiomyopathy |  |
| 5 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-III3 | Fam | F | N | Y | A | ND | 28% | / | / | / | Cardiomyopathy |  |
| 6 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-III5 | Fam | F | N | N | D | 63 | / | / | / | / | Healthy |  |
| 7 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-IV2 | Fam | M | N | N | A | 45 | 9% | / | / | / | Healthy |  |
| 8 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-IV3 | Fam | F | N | N | A | 40 | 11% | / | / | / | Healthy |  |
| 9 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-IV5 | Fam | F | N | Y | A | ND | 82% | / | / | / | Exercise interolance, premature fatigue |  |
| 10 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-V4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 11 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-V5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 12 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-V6 | Fam | F | N | N | A | 7 | 52% | / | / | / | Healthy |  |
| 13 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-V7 | Fam | M | N | Y | D | 10 weeks | / | / | / | / | Sudden infant death |  |
| 14 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-V8 | Fam | F | Y | Y | D | 9 months | Homo | Homo | / | Homo (Heart) | Congestive heart failur, muscle hypotonia, lactic acidosis |  |
| 15 | 3303 | m.3303C\>T | C3303T\-F1 | C3303T\-F1\-V9 | Fam | M | N | Y | D | 3 months | Homo | Homo | / | Homo (Heart) | Congestive heart failur, lactic acidosis |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).