T8316C-F1

**Figure 1\. Pedigree diagram for family T8316C\-F1\.**

![](/media/202607/T8316C-F1-pedigree_20260701024738573295.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 | 8316 | m.8316T\>C | T8316C\-F1 | Spain | MELAS; mitochondrial myopathy; lactic acidosis; stroke\-like episodes | 4 | 0 | 2000 | [10996780](https://pubmed.ncbi.nlm.nih.gov/10996780/) | / |

The **m.8316T\>C** variant in MT\-TK was reported in family T8316C\-F1 from Spain with melas; mitochondrial myopathy; lactic acidosis; stroke\-like episodes. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 1/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was melas, learning disability, exercise intolerance, ophthalmoparesis, weakness, stroke\-like episode, myoclonus, respiratory insufficiency.

# 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 | 8316 | m.8316T\>C | T8316C\-F1 | T8316C\-F1\-III1 | Fam | F | N | N | A | ND | 14% | / | / | / | Healthy | Original label III\-1\. |
| 2 | 8316 | m.8316T\>C | T8316C\-F1 | T8316C\-F1\-III2 | Fam | M | N | N | A | ND | 7% | / | / | / | Healthy | Original label III\-2\. |
| 3 | 8316 | m.8316T\>C | T8316C\-F1 | T8316C\-F1\-III3 | Fam | M | N | N | A | ND | 6% | / | / | / | Healthy | Original label III\-3\. |
| 4 | 8316 | m.8316T\>C | T8316C\-F1 | T8316C\-F1\-IV2 | Fam | F | Y | Y | A | 14 | 45% | Homo | / | / | MELAS; learning disability; exercise intolerance; ophthalmoparesis; weakness; stroke\-like episode; myoclonus; respiratory insufficiency; mild dilated cardiomyopathy | Proposita IV\-2; muscle homoplasmic, blood 45%. |
| 5 | 8316 | m.8316T\>C | T8316C\-F1 | T8316C\-F1\-IV1 | Fam | M | N | N | A | ND | 0 | / | / | / | Healthy | Original label IV\-1; mutation not detected in blood. |

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