A8344G-F119

**Figure 1\. Pedigree diagram for family A8344G\-F119\.**

![](/media/202607/A8344G-F119-pedigree_20260701023752541099.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\-F119 | German | m.8344A\>G MERRF spectrum | 1 | 1 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F4; 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\-F119 from German with m.8344a\>g merrf spectrum. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was seizures, ataxia, myoclonus, tachycardia, depression, rrf, cox\-negative fibers, paraspastic lower limbs.

# 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\-F119 | A8344G\-F119\-I2 | Uninf | F | ND | N | A | ND | / | / | / | / | Healthy | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. Removed from Clinical Features: Asymptomatic mutation carrier marked by asterisk |
| 2 | 8344 | m.8344A\>G | A8344G\-F119 | A8344G\-F119\-II1 | Fam | F | ND | Y | A | 39 | 7% | / | / | / | Seizures; ataxia; myoclonus; tachycardia; depression; RRF/COX\-negative fibers | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 3 | 8344 | m.8344A\>G | A8344G\-F119 | A8344G\-F119\-II2 | Fam | M | ND | Y | A | 9 onset/ND evaluation | / | / | / | / | Seizures; myoclonus; paraspastic lower limbs; cachexia; dysphagia; severe dysarthria | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |

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