A8344G-F33

**Figure 1\. Pedigree diagram for family A8344G\-F33\.**

![](/media/202607/A8344G-F33-pedigree_20260701024015816914.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\-F33 | Italy | MERRF spectrum | 4 | 3 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 1; 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\-F33 from Italy with merrf spectrum. The pedigree record reported 4 unaffected and 3 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 4/8 carriers were affected, and the main clinical manifestation among affected carriers was myopathy, dementia, neuropathy, hearing loss, lactic acidosis, rrf, myoclonus, 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\-F33 | A8344G\-F33\-II4 | Fam | F | N | Y | ND | 63 | 83% | 81% | / | / | Myopathy; dementia; neuropathy; hearing loss; lactic acidosis; RRF | Load\-bearing Fig. 1 symbol; exact official ID not printed. |
| 2 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-III1 | Fam | F | N | Y | ND | 41 | 72% | 76% | / | / | Myopathy; neuropathy; hearing loss; lactic acidosis; RRF | Load\-bearing Fig. 1 symbol. |
| 3 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-III2 | Fam | F | N | Y | ND | 36 | 76% | 87% | / | / | Myoclonus; myopathy; seizures; neuropathy; lactic acidosis; RRF | Load\-bearing Fig. 1 symbol. |
| 4 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-III3 | Fam | F | N | N | ND | ND | 55% | / | / | / | Healthy | Load\-bearing Fig. 1 symbol. |
| 5 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-III4 | Fam | M | Y | Y | ND | ND | / | 75% | / | / | MERRF | Arrowhead propositus. |
| 6 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-I1 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy | Caption\-defined dotted positive symbol; no numeric load printed. Original generated Carrier ID: A8344G\-F33\-Ped1G11dottedfounder |
| 7 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-II3 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | Caption\-defined dotted positive symbol; generated label from Figure 1\. Original generated Carrier ID: A8344G\-F33\-Ped1G23dottedrelative |
| 8 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-II6 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Caption\-defined dotted positive symbol; generated label from Figure 1\. Original generated Carrier ID: A8344G\-F33\-Ped1G26dottedrelative |

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