T4414C-F1

**Figure 1\. Pedigree diagram for family T4414C\-F1\.**

![](/media/202606/20260622155601818895.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4414 | m.4414T\>C | T4414C\-F1 | Dutch | CPEO,Myopathy | 2 | 0 | 2019 | [31488384](https://pubmed.ncbi.nlm.nih.gov/31488384/) |  |

The **m.4414T\>C** variant in MT\-TM was reported in family T4414C\-F1 from Dutch with cpeo, myopathy. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 8 listed carriers. 1/5 carriers were affected, and the main clinical manifestation among affected carriers was cpeo, myopathy, bilateral ptosis and diplopia.

# 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 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-I4 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 2 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-II1 | Uninf | M | N | N | ND | ND | 0% | / | 0% | 0% (Buccal) | Healthy |  |
| 3 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-II2 | De novo | F | Y | Y | A | 66 | 0% | 30% | 0% | 0% (Buccal); 0% (H) | CPEO, myopathy, bilateral ptosis and diplopia |  |
| 4 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-III1 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 5 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-III2 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy |  |

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