T8993G-F45

**Figure 1\. Pedigree diagram for family T8993G\-F45\.**

![](/media/202607/T8993G-F45-pedigree_20260701001234832723.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8993 | m.8993T\>G | T8993G\-F45 | French | NARP prenatal diagnosis/risk | 1 | 0 | 2007 | [17545557](https://pubmed.ncbi.nlm.nih.gov/17545557/) | Family 1 |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F45 from French with narp prenatal diagnosis/risk. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 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 | 8993 | m.8993T\>G | T8993G\-F45 | T8993G\-F45\-II2 | De novo | F | N | ND | A | ND | 17% | / | / | / | At\-risk pregnant carrier; clinical phenotype not reported |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F45 | T8993G\-F45\-III4 | Fam | M | N | Y | D | ND | 100% | 100% | / | / | NARP |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F45 | T8993G\-F45\-III5 | Fam | ND | N | N | A | 2 y follow\-up | 0 | / | / | AS2 0 | Healthy |  |

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