T8993G-F3

**Figure 1\. Pedigree diagram for family T8993G\-F3\.**

![](/media/202606/T8993G-F3-pedigree_20260630235745267848.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\-F3 | Czech Republic | Infantile lactate acidosis and encephalomyopathy | 1 | 3 | 1995 | [7605802](https://pubmed.ncbi.nlm.nih.gov/7605802/) |  |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F3 from Czech Republic with infantile lactate acidosis and encephalomyopathy. The pedigree record reported 1 unaffected and 3 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 hypotonia, seizures, apneic spells, psychomotor retardation, lactic acidosis, infantile lactate acidosis and encephalomyopathy.

# 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\-F3 | T8993G\-F3\-I1 | Uninf | F | N | N | A | ND | 50% | / | / | 50%(F) | Healthy |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F3 | T8993G\-F3\-II2 | Fam | M | N | Y | A | 3mo | \>99% | / | / | \>99%(F) | Hypotonia; seizures; apneic spells; psychomotor retardation; lactic acidosis |  |
| 3 | 8993 | m.8993T\>G | T8993G\-F3 | T8993G\-F3\-II3 | Fam | M | N | Y | D | 3\.5mo | \>99% | / | / | \>99%(F) | Infantile lactate acidosis and encephalomyopathy |  |
| 4 | 8993 | m.8993T\>G | T8993G\-F3 | T8993G\-F3\-II4 | Fam | M | Y | Y | A | 8 | 96% | / | / | / | Infantile lactate acidosis and encephalomyopathy |  |

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