A8344G-F128

**Figure 1\. Pedigree diagram for family A8344G\-F128\.**

![](/media/202607/A8344G-F128-pedigree_20260701023858260164.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\-F128 | German | m.8344A\>G MERRF spectrum | 0 | 1 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F13; 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\-F128 from German with m.8344a\>g merrf spectrum. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was lipoma, tremor, hearing impairment, leukoencephalopathy, myoclonus, ataxia, stroke\-like episode, dementia.

# 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\-F128 | A8344G\-F128\-II2 | Fam | F | ND | Y | A | 63 | 75% | 70% | 80% | 100%(BM) | Lipoma; tremor; hearing impairment; leukoencephalopathy | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 2 | 8344 | m.8344A\>G | A8344G\-F128 | A8344G\-F128\-III2 | Fam | F | ND | Y | A | 40 | 85% | 90% | 80% | 100%(BM) | Myoclonus; ataxia; stroke\-like episode; dementia; white matter hyperintensities | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |

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