A8344G-F45

**Figure 1\. Pedigree diagram for family A8344G\-F45\.**

![](/media/202607/A8344G-F45-pedigree_20260701024213208294.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\-F45 | France | MERRF | 0 | 1 | 1993 | [8386419](https://pubmed.ncbi.nlm.nih.gov/8386419/) | Patient 17 family/brother; text is internally inconsistent about whether the brother belongs to Patient 16 or 17, so one brother row is retained with an explicit caveat. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F45 from France with merrf. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was severe action myoclonus, ataxia, sporadic tonic\-clonic seizures, optic atrophy, pyramidal signs, minimal clinical signs, occasional jerks, generalized spike\-and\-wave eeg discharges.

# 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\-F45 | A8344G\-F45\-II1 | Uninf | M | Y | Y | D | 24 | / | positive | / | / | Severe action myoclonus, ataxia, sporadic tonic\-clonic seizures, optic atrophy, pyramidal signs | Patient 17; died 8 years after onset. |
| 2 | 8344 | m.8344A\>G | A8344G\-F45 | A8344G\-F45\-II2 | Uninf | M | N | Y | ND | ND | positive | positive | / | / | Minimal clinical signs, occasional jerks, generalized spike\-and\-wave EEG discharges, RRF | Brother relationship is inconsistent in text (brother of Patient 17 vs Patient 16\); mutation reported in both muscle and lymphocyte mtDNA. |

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