A8344G-F56

**Figure 1\. Pedigree diagram for family A8344G\-F56\.**

![](/media/202607/A8344G-F56-pedigree_20260701024331574526.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\-F56 | United Kingdom | MERRF spectrum with ataxia/neuropathy/optic atrophy/stroke\-like episodes | 0 | 3 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 122; G/H from Figure 2/Table 1 maternal\-line review. supported from Table 1/Fig. 2; no mechanical carrier\-row count |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F56 from United Kingdom with merrf spectrum with ataxia/neuropathy/optic atrophy/stroke\-like episodes. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was myoclonus, ataxia, seizures, limb weakness, optic atrophy, ophthalmoplegia, neuropathy, stroke\-like episodes.

# 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\-F56 | A8344G\-F56\-III5 | Fam | M | Y | Y | A | 22 | 87% | 93% | / | / | Myoclonus; ataxia; seizures; limb weakness; optic atrophy; ophthalmoplegia | Table 1 propositus; prior mis\-mapped this person. |
| 2 | 8344 | m.8344A\>G | A8344G\-F56 | A8344G\-F56\-II1 | Fam | M | N | Y | A | 58 | 71% | / | / | / | Ataxia; neuropathy | No Table 1 muscle value; prior muscle 69% belongs to II\-3\. |
| 3 | 8344 | m.8344A\>G | A8344G\-F56 | A8344G\-F56\-II3 | Fam | F | N | Y | A | 59 | 62% | 69% | / | / | Ataxia; limb weakness | Mother; blood/muscle 62/69\. |
| 4 | 8344 | m.8344A\>G | A8344G\-F56 | A8344G\-F56\-III1 | Fam | M | N | Y | D | 25 | / | 92% | / | / | Myoclonus; ataxia; seizures; optic atrophy; stroke\-like episodes | Cousin; muscle only; died age 25\. |

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