A8344G-F127

**Figure 1\. Pedigree diagram for family A8344G\-F127\.**

![](/media/202607/A8344G-F127-pedigree_20260701023843745368.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\-F127 | German | m.8344A\>G MERRF spectrum | 0 | 3 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F12; 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\-F127 from German with m.8344a\>g merrf spectrum. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was fatigue, myalgia, optic atrophy, cerebellar atrophy, ataxic gait, seizures, ataxia, myoclonia.

# 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\-F127 | A8344G\-F127\-II2 | Fam | F | ND | Y | A | 64 | / | / | / | / | Fatigue/myalgia; optic atrophy; cerebellar atrophy; ataxic gait | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 2 | 8344 | m.8344A\>G | A8344G\-F127 | A8344G\-F127\-II5 | Fam | F | ND | Y | D | 40 | / | / | / | / | Seizures; ataxia; myoclonia; myopathy/RRF | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 3 | 8344 | m.8344A\>G | A8344G\-F127 | A8344G\-F127\-III4 | Fam | M | ND | Y | A | 38 | 56% | / | 63% | / | Migraine; myoclonus; optic atrophy; cerebellar atrophy | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 4 | 8344 | m.8344A\>G | A8344G\-F127 | A8344G\-F127\-III6 | Fam | M | ND | Y | D | 14 | / | / | / | / | Cognitive impairment; ataxia; myoclonus | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |

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