A8344G-F34

**Figure 1\. Pedigree diagram for family A8344G\-F34\.**

![](/media/202607/A8344G-F34-pedigree_20260701024025139433.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\-F34 | Italy | MERRF spectrum | 0 | 2 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 2; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F34 from Italy with merrf spectrum. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was merrf, affected non\-full\-merrf syndrome, myoclonus, myopathy, ataxia, seizures, neuropathy, hearing loss.

# 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\-F34 | A8344G\-F34\-I1 | Uninf | F | Y | Y | ND | ND | / | 86% | / | / | MERRF | Load\-bearing Fig. 1 symbol. |
| 2 | 8344 | m.8344A\>G | A8344G\-F34 | A8344G\-F34\-II1 | Fam | M | N | Y | ND | ND | / | 96% | / | / | Affected non\-full\-MERRF syndrome | Load\-bearing Fig. 1 symbol. |
| 3 | 8344 | m.8344A\>G | A8344G\-F34 | A8344G\-F34\-II2 | Fam | F | N | Y | ND | 42 | / | 94% | / | / | Myoclonus; myopathy; ataxia; seizures; neuropathy; hearing loss; lactic acidosis | Load\-bearing Fig. 1 symbol. |

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