A8344G-F9

**Figure 1\. Pedigree diagram for family A8344G\-F9\.**

![](/media/202607/A8344G-F9-pedigree_20260701024440506910.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\-F9 | Italy | MERRF spectrum; severe and incomplete/subclinical cases | 4 | 1 | 1991 | [1899320](https://pubmed.ncbi.nlm.nih.gov/1899320/) | Pedigree 1; Table 1 A\-G status controls inclusion. Pedigrees 6/7 and 8170567 duplicate/support are excluded. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F9 from Italy with merrf spectrum; severe and incomplete/subclinical cases. The pedigree record reported 4 unaffected and 1 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 2/6 carriers were affected, and the main clinical manifestation among affected carriers was full\-blown, severe merrf, incomplete, moderate merrf.

# 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\-F9 | A8344G\-F9\-II12 | Fam | ND | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 1 II\-12; A8344G\-positive asymptomatic/subclinical maternal relative; qualitative heteroplasmic muscle DNA; exact load not reported. |
| 2 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III4 | Fam | ND | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 1 III\-4; A8344G\-positive asymptomatic/subclinical maternal relative; qualitative heteroplasmic muscle DNA. |
| 3 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III11 | Fam | ND | N | Y | ND | ND | / | positive | / | / | Full\-blown/severe MERRF | Pedigree 1 III\-11; qualitative heteroplasmic muscle DNA. |
| 4 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III13 | Fam | ND | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 1 III\-13; A8344G\-positive asymptomatic/subclinical maternal relative; qualitative heteroplasmic muscle DNA. |
| 5 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III17 | Fam | ND | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 1 III\-17; A8344G\-positive asymptomatic/subclinical maternal relative; qualitative heteroplasmic muscle DNA. |
| 6 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III19 | Fam | ND | N | Y | ND | ND | / | positive | / | / | Incomplete/moderate MERRF | Pedigree 1 III\-19; qualitative heteroplasmic muscle DNA. |

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