T8993G-F33

**Figure 1\. Pedigree diagram for family T8993G\-F33\.**

![](/media/202607/T8993G-F33-pedigree_20260701000957556289.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\-F33 | United States | Subacute necrotizing encephalopathy; NARP | 0 | 4 | 1992 | [1436530](https://pubmed.ncbi.nlm.nih.gov/1436530/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F33 from United States with subacute necrotizing encephalopathy; narp. The pedigree record reported 0 unaffected and 4 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was pigmentary retinopathy, impaired night vision, migraine headaches, sne, leigh disease, severe psychomotor retardation, hypotonia, seizures.

# 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\-F33 | T8993G\-F33\-II1 | Uninf | F | N | Y | A | ND | 86% | / | / | / | Pigmentary retinopathy, impaired night vision, migraine headaches |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F33 | T8993G\-F33\-III1 | Fam | F | N | Y | D | 2\.5 y | / | / | / | 82%(BRAIN) | SNE/Leigh disease; severe psychomotor retardation, hypotonia, seizures, respiratory arrest |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F33 | T8993G\-F33\-III2 | Fam | M | N | Y | A | 11 y | \>95% | 92% | / | / | Moderate psychomotor retardation, pigmentary retinopathy, episodic ataxia |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F33 | T8993G\-F33\-III3 | Fam | M | N | Y | A | 14 y | \>95% | 95% | / | / | Moderate psychomotor retardation, pigmentary retinopathy, episodic ataxia |  |
| 5 | 8993 | m.8993T\>G | T8993G\-F33 | T8993G\-F33\-III4 | Fam | F | N | Y | D | 14 mo | / | / | / | 77%(BRAIN) | SNE/Leigh disease; severe psychomotor retardation, hypotonia, dystonia, apnea |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).