T5628C-F1

**Figure 1\. Pedigree diagram for family T5628C\-F1\.**

![](/media/202606/20260625140559842366.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5628 | m.5628T\>C | T5628C\-F1 | Italy | CPEO | 5 | 0 | 2001 | [11404121](https://pubmed.ncbi.nlm.nih.gov/11404121/) |  |

The **m.5628T\>C** variant in MT\-TA was reported in family T5628C\-F1 from Italy with cpeo. The pedigree record reported 5 unaffected and 0 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 1/6 carriers were affected, and the main clinical manifestation among affected carriers was chronic progressive external ophthalmoplegia, dysphagia, proximal 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 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-I2 | De novo | F | Y | Y | A | 62 | 10% | 40% | / | / | Chronic progressive external ophthalmoplegia, dysphagia, proximal myopathy |  |
| 2 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II1 | Uninf | F | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 3 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II2 | Uninf | M | N | N | A | ND | 10% | / | / | / | Healthy |  |
| 4 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II3 | Uninf | M | N | N | A | ND | 3% | / | / | / | Healthy |  |
| 5 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II4 | Uninf | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II5 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |

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