A8344G-F29

**Figure 1\. Pedigree diagram for family A8344G\-F29\.**

![](/media/202607/A8344G-F29-pedigree_20260701024007230084.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\-F29 | Sweden | MERRF spectrum with asymptomatic/high\-load maternal relatives | 6 | 1 | 1992 | [1463006](https://pubmed.ncbi.nlm.nih.gov/1463006/) | Family B; G/H from Figure 1 maternal\-line eligibility; branch\-stop negatives included where eligible. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F29 from Sweden with merrf spectrum with asymptomatic/high\-load maternal relatives. The pedigree record reported 6 unaffected and 1 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 2/8 carriers were affected, and the main clinical manifestation among affected carriers was ataxia, myopathy, pes cavus, merrf with myoclonus.

# 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\-F29 | A8344G\-F29\-I1 | Uninf | F | N | N | ND | 70 | 43% lymphocytes | / | / | / | No clinical features reported | Founder carrier |
| 2 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-II2 | Fam | F | N | N | ND | 46 | 51% lymphocytes | / | / | / | No clinical features reported | Carrier |
| 3 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-II3 | Fam | M | N | Y | ND | 44 | 82% lymphocytes | / | / | / | Ataxia, myopathy, pes cavus | Carrier |
| 4 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-II5 | Fam | F | N | N | ND | 42 | 66% lymphocytes | 73% | / | 50%(F) | Healthy/no neuromuscular signs; RRF/COX\-deficient fibers present | Mother of proband |
| 5 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-II6 | Fam | F | N | N | ND | 38 | 63% lymphocytes | / | / | / | Pes cavus only; otherwise healthy | Carrier |
| 6 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-III5 | Fam | M | Y | Y | ND | 23 | 80% lymphocytes | 96% | / | 54%(F) | MERRF with myoclonus, ataxia, myopathy, pes cavus | Family B proband |
| 7 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-III6 | Fam | M | N | N | ND | 20 | 50% lymphocytes | 61% | / | 48%(F) | Healthy/no neuromuscular signs | Brother of proband |
| 8 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-III8 | Fam | M | N | N | ND | 8 | 59% lymphocytes | / | / | / | No clinical features reported | Figure\-positive child of carrier II\-6 |

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