A8344G-F55

**Figure 1\. Pedigree diagram for family A8344G\-F55\.**

![](/media/202607/A8344G-F55-pedigree_20260701024322434534.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\-F55 | United Kingdom | MERRF spectrum | 1 | 2 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 101; G/H from Figure 2/Table 1 maternal\-line review. requires adding negative\-tested branch stop |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F55 from United Kingdom with merrf spectrum. The pedigree record reported 1 unaffected and 2 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 myoclonus, ataxia, seizures, deafness, 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\-F55 | A8344G\-F55\-II4 | Fam | M | Y | Y | A | 31 | 92% | 97% | / | / | Myoclonus; ataxia; seizures; deafness | Proband. |
| 2 | 8344 | m.8344A\>G | A8344G\-F55 | A8344G\-F55\-I2 | Uninf | F | N | Y | A | 55 | 84% | / | / | / | Myoclonus; ataxia; seizures; neuropathy; dementia; deafness | Mother; no Table 1 muscle value despite prior 93%. |
| 3 | 8344 | m.8344A\>G | A8344G\-F55 | A8344G\-F55\-II1 | Fam | F | N | N | A | 35 | 0 | / | / | / | Healthy | Eligible negative\-tested daughter of target\-positive mother; add as branch stop. |
| 4 | 8344 | m.8344A\>G | A8344G\-F55 | A8344G\-F55\-II5 | Fam | F | N | Y | A | 27 | 94% | / | / | / | Myoclonus; seizures | Affected sister. |

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