A8344G-F54

**Figure 1\. Pedigree diagram for family A8344G\-F54\.**

![](/media/202607/A8344G-F54-pedigree_20260701024313858645.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\-F54 | United Kingdom | MERRF spectrum with high\-load symptomatic and asymptomatic offspring | 3 | 1 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 100; G/H from Figure 2/Table 1 maternal\-line review. minimum supported plus Table 3 expansion |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F54 from United Kingdom with merrf spectrum with high\-load symptomatic and asymptomatic offspring. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was myoclonus, ataxia, seizures, neuropathy, optic atrophy, deafness, 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\-F54 | A8344G\-F54\-II7 | Fam | F | Y | Y | A | 59 | 70% | 94% | / | / | Myoclonus; ataxia; seizures; neuropathy; optic atrophy; deafness | Symptomatic target\-positive mother. |
| 2 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-II5 | Fam | F | N | N | A | 63 | 30% | / | / | / | Healthy | Unaffected sister. |
| 3 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-III4 | Fam | M | N | Y | A | 38 | 75% | 91% | / | / | Myoclonus; ataxia; dementia; neuropathy; optic atrophy | Affected son of target\-positive mother. |
| 4 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-III6 | Fam | F | N | N | A | 40 | 69% | / | / | / | Healthy | Unaffected daughter of target\-positive mother. |
| 5 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-III7 | Fam | M | N | N | A | 37 | 57% | / | / | / | Healthy | Unaffected son of target\-positive mother. |

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