T8993G-F46

**Figure 1\. Pedigree diagram for family T8993G\-F46\.**

![](/media/202607/T8993G-F46-pedigree_20260701001254578314.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\-F46 | French | NARP prenatal diagnosis/risk | 0 | 0 | 2007 | [17545557](https://pubmed.ncbi.nlm.nih.gov/17545557/) | Family 3 |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F46 from French with narp prenatal diagnosis/risk. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 0/2 carriers were affected, and the main clinical manifestation among affected carriers was not available.

# 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\-F46 | T8993G\-F46\-I1 | Uninf | F | N | N | A | ND | 30% | / | / | / | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F46 | T8993G\-F46\-II3 | Fam | ND | N | ND | D | ND | / | / | / | 100%(CVS) | ND | Prenatal diagnosis paper. |

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