A8344G-F92

**Figure 1\. Pedigree diagram for family A8344G\-F92\.**

![](/media/202607/A8344G-F92-pedigree_20260701024503497112.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\-F92 | USA | MERRF spectrum; progressive muscle wasting; unsteadiness; seizures; muscle weakness; moderate/asymptomatic heteroplasmy | 16 | 2 | 2005 | [15683723](https://pubmed.ncbi.nlm.nih.gov/15683723/) | Enter only text\-mapped target\-positive subjects in this packet; Fig. 1 may support additional carriers after visual review. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F92 from USA with merrf spectrum; progressive muscle wasting; unsteadiness; seizures; muscle weakness; moderate/asymptomatic heteroplasmy. The pedigree record reported 16 unaffected and 2 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 2/7 carriers were affected, and the main clinical manifestation among affected carriers was progressive muscle weakness, fatigue, unsteadiness, profound weakness, spontaneous muscle contractions, resting tremor, olivopontocerebellar degeneration, occasional 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\-F92 | A8344G\-F92\-IV1 | Fam | M | Y | Y | ND | 50 | 70% | 95% | / | 69%(BM) | Progressive muscle weakness, fatigue, unsteadiness, profound weakness, spontaneous muscle contractions, resting tremor, olivopontocerebellar degeneration, occasional myoclonus, limited exercise ability | Age is onset age reported as age 50; evaluation age not fully resolved.; Evidence: Pages 3\-4\. |
| 2 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-III3 | Fam | F | N | ND | ND | ND | 0% | / | / | 6%(BM) | ND | Mother of index case; two blood specimens negative, buccal positive at 6%.; Evidence: Page 3 DNA mutation analysis. |
| 3 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV10 | Fam | M | N | Y | ND | 39 | 31% | / | / | 57%(BM) | Seizures, unsteadiness, spontaneous muscle contractions, muscle weakness, neck fatty tumor | Cigarette smoker; F2\-isoprostane 108 pg/ml; smoking is a confounder for oxidative injury marker.; Evidence: Page 3 case report 2\. |
| 4 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV16 | Fam | M | N | N | ND | 22 | 46% | / | / | 62%(BM) | Healthy | Described as healthy and active; hypertension reported; moderate heteroplasmy and elevated F2\-isoprostanes.; Evidence: Page 3 case report 3\. |
| 5 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-III9 | Fam | F | N | ND | ND | ND | / | / | / | 15%(ND) | ND | Reported 15% heteroplasmy and transmitted the mutation to all three sons.; Evidence: Page 2 selected case reports. |
| 6 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV8 | Fam | M | N | ND | ND | ND | / | / | / | / | ND | Target\-positive by maternal transmission statement; exact tissue/load not extracted.; Evidence: Page 2 selected case reports. |
| 7 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV9 | Fam | M | N | ND | ND | ND | / | / | / | / | ND | Target\-positive by maternal transmission statement; exact tissue/load not extracted.; Evidence: Page 2 selected case reports. |

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