A8344G-F51

**Figure 1\. Pedigree diagram for family A8344G\-F51\.**

![](/media/202607/A8344G-F51-pedigree_20260701024256746912.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 | 8344 | m.8344A\>G | A8344G\-F51 | United Kingdom | MERRF/Leigh syndrome in proband; asymptomatic positive mother and maternal uncle | 2 | 0 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 97; G/H from Figure 2/Table 1 maternal\-line review. minimum supported; one untested child candidate |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F51 from United Kingdom with merrf/leigh syndrome in proband; asymptomatic positive mother and maternal uncle. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was merrf, leigh syndrome, myoclonus, ataxia, seizures, limb weakness, neuropathy, dementia.

# 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 | 8344 | m.8344A\>G | A8344G\-F51 | A8344G\-F51\-III1 | Fam | M | Y | Y | D | 19 | 81% | 99% | / | / | MERRF/Leigh syndrome; myoclonus, ataxia, seizures, limb weakness, neuropathy, dementia | Fig. 2 and Table 1\. |
| 2 | 8344 | m.8344A\>G | A8344G\-F51 | A8344G\-F51\-II2 | Fam | F | N | N | A | 39 | 72% | / | / | / | Healthy | Mother of proband; normal examination. |
| 3 | 8344 | m.8344A\>G | A8344G\-F51 | A8344G\-F51\-II4 | Fam | M | N | N | A | 42 | 49% | / | / | / | Healthy | Maternal uncle; male branch does not transmit to descendants. |

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