A8344G-F95

**Figure 1\. Pedigree diagram for family A8344G\-F95\.**

![](/media/202607/A8344G-F95-pedigree_20260701024512152182.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\-F95 | German | MERRF / double\-heteroplasmic A8344G\-A16182C family | 2 | 1 | 2007 | [17236134](https://pubmed.ncbi.nlm.nih.gov/17236134/) | Figure 1A values are blood 8344G/16182C percentages; only the first number is A8344G load. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F95 from German with merrf / double\-heteroplasmic a8344g\-a16182c family. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was merrf syndrome, occasional seizures.

# 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\-F95 | A8344G\-F95\-III2 | Fam | M | Y | Y | A | 14 | 35% | / | / | / | MERRF syndrome | Also carried A16182C at 61% in blood; additional tissue loads were plotted but not tabulated.; Evidence: Page 1 Subjects and page 2 Figure 1A. |
| 2 | 8344 | m.8344A\>G | A8344G\-F95 | A8344G\-F95\-III1 | Fam | F | N | Y | A | 29 | 2% | / | / | / | Occasional seizures | Also carried A16182C at 99% in blood; single\-fibroblast data showed tetraplasmy.; Evidence: Page 1 Subjects and page 2 Figure 1A/D. |
| 3 | 8344 | m.8344A\>G | A8344G\-F95 | A8344G\-F95\-II2 | Fam | F | N | N | A | ND | 1% | / | / | / | Healthy | Symptom\-free; blood also carried A16182C at 100%.; Evidence: Page 1 Subjects and page 2 Figure 1A/C. |
| 4 | 8344 | m.8344A\>G | A8344G\-F95 | A8344G\-F95\-II1 | Fam | F | N | N | A | ND | 10% | / | / | / | Healthy | Symptom\-free; blood also carried A16182C at 67%.; Evidence: Page 1 Subjects and page 2 Figure 1A. |

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