A8332G-F1

**Figure 1\. Pedigree diagram for family A8332G\-F1\.**

![](/media/202607/A8332G-F1-pedigree_20260701023610351346.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 | 8332 | m.8332A\>G | A8332G\-F1 | Hungary | Dystonia and stroke\-like episodes | 0 | 2 | 2009 | [19930207](https://pubmed.ncbi.nlm.nih.gov/19930207/) | / |

The **m.8332A\>G** variant in MT\-TK was reported in family A8332G\-F1 from Hungary with dystonia and stroke\-like episodes. 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 dystonia, stroke\-like episodes, respiratory muscle weakness, pes cavus, transient dyskinesia, hemiparesis, epilepsy, mild dystonia.

# 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 | 8332 | m.8332A\>G | A8332G\-F1 | A8332G\-F1\-II1 | Fam | M | Y | Y | A | 16 | 55% | 65% | / | / | Dystonia; stroke\-like episodes; respiratory muscle weakness; pes cavus | Patient 1; proband. |
| 2 | 8332 | m.8332A\>G | A8332G\-F1 | A8332G\-F1\-II2 | Fam | M | N | Y | A | 19 | 17% | / | / | / | Transient dyskinesia; hemiparesis; epilepsy; mild dystonia; axonal neuropathy | Patient 2; brother of proband. |
| 3 | 8332 | m.8332A\>G | A8332G\-F1 | A8332G\-F1\-I1 | uninf | F | N | Y | A | 50 | 35% | / | / | / | Childhood stroke; dysarthria; truncal ataxia; focal dyskinesia; severe SNHL; mental retardation | Patient 3; mother of proband. |

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