T8993G-F42

**Figure 1\. Pedigree diagram for family T8993G\-F42\.**

![](/media/202607/T8993G-F42-pedigree_20260701001135811370.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\-F42 | Spanish | NARP\-MILS; adult Leigh/NARP continuum | 3 | 4 | 2006 | [16525806](https://pubmed.ncbi.nlm.nih.gov/16525806/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F42 from Spanish with narp\-mils; adult leigh/narp continuum. The pedigree record reported 3 unaffected and 4 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was retinitis pigmentosa, gait ataxia, psychosis, deafness, ataxia, dystonia, chorea, pyramidalism.

# 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\-F42 | T8993G\-F42\-II3 | Fam | M | N | Y | A | 50 y onset | 53% | / | / | / | Retinitis pigmentosa, gait ataxia, psychosis |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F42 | T8993G\-F42\-II4 | Fam | M | Y | Y | D | 64 y | 75% | 87% | / | 89%(brainstem/cortex); 90%(putamen/cerebellum); 91%(THALAMUS) | Retinitis pigmentosa, psychosis, deafness, ataxia, dystonia, chorea, pyramidalism, putaminal lesions |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F42 | T8993G\-F42\-II5 | Fam | M | N | Y | A | 56 y onset | 69% | 77% | / | / | Retinitis pigmentosa, optic atrophy, deafness, dysarthria, mild gait ataxia, chorea, axonal polyneuropathy, seizures |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F42 | T8993G\-F42\-II6 | Fam | F | N | N | A | 59 y | 0% | / | / | / | Healthy |  |

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