T8355C

# **General Information**

| **Position** | **8355** | **Variant** | **m.8355T\>C** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 67\.20% | **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.8355T\>C** variant in MT\-TK has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 10% to 62%, with a median of 36% overall; affected carriers showed mutation loads from 10% to 62%, with a median of 36%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (62%) than in blood (10%). The main clinical manifestations among affected carriers included myopathy, PEO, and skeletal and respiratory myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8355 | m.8355T\>C | T8355C\-F1 | France | Myopathy | 0 | 0 | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) | / |

# **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 | 8355 | m.8355T\>C | T8355C\-F1 | T8355C\-F1\-P1 | Uninf | M | Y | Y | ND | 64 | 10% | 62% | / | / | Myopathy; PEO; skeletal and respiratory myopathy | Table 3 patient 26\.; Histochemistry/RC enzyme findings moved from Clinical Features during QC. |

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