A8344G-F123

**Figure 1\. Pedigree diagram for family A8344G\-F123\.**

![](/media/202607/A8344G-F123-pedigree_20260701023826729347.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\-F123 | German | m.8344A\>G MERRF spectrum | 0 | 2 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F8; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F123 from German with m.8344a\>g 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 clinical details not available, muscle weakness, ophthalmoplegia, fatigue, trendelenburg gait.

# 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\-F123 | A8344G\-F123\-II2 | Fam | F | ND | Y | A | ND | / | / | / | / | Clinical details not available | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 2 | 8344 | m.8344A\>G | A8344G\-F123 | A8344G\-F123\-II3 | Fam | M | ND | Y | A | 50 | 64% (63,65\) | / | / | / | Muscle weakness; ophthalmoplegia; fatigue; Trendelenburg gait | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 3 | 8344 | m.8344A\>G | A8344G\-F123 | A8344G\-F123\-II6 | Fam | F | ND | Y | A | ND | / | / | / | / | Clinical details not available | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |

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