T5789C-F1

**Figure 1\. Pedigree diagram for family T5789C\-F1\.**

![](/media/202606/20260622113634223180.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5789 | m.5789T\>C | T5789C\-F1 | Germany | NARP | 3 | 0 | 2022 | [35252560](https://pubmed.ncbi.nlm.nih.gov/35252560/) |  |

The **m.5789T\>C** variant in MT\-TC was reported in family T5789C\-F1 from Germany with narp. 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 narp.

# 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 | 5789 | m.5789T\>C | T5789C\-F1 | T5789C\-F1\-II1 | fam | M | Y | Y | A | 59 | 11% | 44% | 28% | 12%(F) | NARP |  |
| 2 | 5789 | m.5789T\>C | T5789C\-F1 | T5789C\-F1\-II2 | fam | M | N | N | A | ND | \+ | / | \+ | / | Healthy |  |
| 3 | 5789 | m.5789T\>C | T5789C\-F1 | T5789C\-F1\-II3 | fam | M | N | N | A | ND | \+ | / | \+ | / | Healthy |  |
| 4 | 5789 | m.5789T\>C | T5789C\-F1 | T5789C\-F1\-II4 | fam | F | N | N | A | ND | \+ | / | \+ | / | Healthy |  |

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