T10158C-F10

**Figure 1\. Pedigree diagram for family T10158C\-F10\.**

![](/media/202606/20260629232708756605.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10158 | m.10158T\>C | T10158C\-F10 | Italy | MELAS, stroke\-like episodes | 1 | 0 | 2013 | [27742419](https://pubmed.ncbi.nlm.nih.gov/27742419/) |  |

The **m.10158T\>C** variant in MT\-ND3 was reported in family T10158C\-F10 from Italy with melas, stroke\-like episodes. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was melas\-like phenotype, epilepsia partialis continua, stroke\-like episodes, headache, vomiting.

# 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 | 10158 | m.10158T\>C | T10158C\-F10 | T10158C\-F10\-Ⅰ1 | Uninf | F | N | N | A | ND | 10% | / | 70% | 50%(BM) | Healthy |  |
| 2 | 10158 | m.10158T\>C | T10158C\-F10 | T10158C\-F10\-Ⅱ1 | Fam | M | Y | Y | A | 11 y | 70% | 95% | 95% | 80%(BM) | MELAS\-like phenotype, epilepsia partialis continua, stroke\-like episodes/headache/vomiting |  |

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