A8332G

# **General Information**

| **Position** | **8332** | **Variant** | **m.8332A\>G** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 62\.80% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.8332A\>G** variant in MT\-TK has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 17% to 65%, with a median of 45% overall; affected carriers showed mutation loads from 17% to 65%, with a median of 45%. The main clinical manifestations among affected carriers included childhood stroke, dystonia, transient dyskinesia, axonal neuropathy, dysarthria, epilepsy, focal dyskinesia, hemiparesis, and other features.

| **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](https://mitofam.com/doc/2183/) | Hungary | Dystonia and stroke\-like episodes | 0 | 2 | 2009 | [19930207](https://pubmed.ncbi.nlm.nih.gov/19930207/) | / |

# **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. |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).