A8344G-F10

**Figure 1\. Pedigree diagram for family A8344G\-F10\.**

![](/media/202607/A8344G-F10-pedigree_20260701023645944210.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\-F10 | Italy | MERRF with asymptomatic heteroplasmic brother | 1 | 0 | 1991 | [1899320](https://pubmed.ncbi.nlm.nih.gov/1899320/) | Pedigree 2; 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\-F10 from Italy with merrf with asymptomatic heteroplasmic brother. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was severely affected merrf patient.

# 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\-F10 | A8344G\-F10\-III2 | Fam | M | Y | Y | ND | ND | / | positive | / | / | Severely affected MERRF patient | Pedigree 2 III\-2; qualitative heteroplasmic muscle DNA. |
| 2 | 8344 | m.8344A\>G | A8344G\-F10 | A8344G\-F10\-III3 | Fam | M | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 2 III\-3; asymptomatic brother; qualitative heteroplasmic muscle DNA. |

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