T8993G-F44

**Figure 1\. Pedigree diagram for family T8993G\-F44\.**

![](/media/202607/T8993G-F44-pedigree_20260701001215600038.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\-F44 | French | Progressive myoclonic epilepsy; NARP mitochondriopathy | 0 | 1 | 2007 | [17452590](https://pubmed.ncbi.nlm.nih.gov/17452590/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F44 from French with progressive myoclonic epilepsy; narp mitochondriopathy. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was progressive myoclonic epilepsy phenotype, myoclonus, epilepsy, ataxia, axonal sensorimotor polyneuropathy, epilepsy since 17 y and ataxia since 18 y, normal psychomotor development.

# 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\-F44 | T8993G\-F44\-I1 | Uninf | F | Y | Y | A | 46 y | 30% | 60% | / | 80%(F) | Progressive myoclonic epilepsy phenotype; myoclonus, epilepsy, ataxia, axonal sensorimotor polyneuropathy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F44 | T8993G\-F44\-II1 | Fam | F | N | Y | A | 25 y | 60% | / | / | / | Epilepsy since 17 y and ataxia since 18 y; normal psychomotor development |  |

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