T10191C-F13

**Figure 1\. Pedigree diagram for family T10191C\-F13\.**

![](/media/202606/20260629232810053691.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 | 10191 | m.10191T\>C | T10191C\-F13 | United Kingdom | Stroke\-like episodes | 3 | 0 | 2001 | [11456298](https://pubmed.ncbi.nlm.nih.gov/11456298/) |  |

The **m.10191T\>C** variant in MT\-ND3 was reported in family T10191C\-F13 from United Kingdom with stroke\-like episodes. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was epilepsy, stroke\-like episodes, bilateral optic atrophy, cognitive decline, ataxia, peripheral neuropathy.

# 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 | 10191 | m.10191T\>C | T10191C\-F13 | T10191C\-F13\-Ⅰ1 | Uninf | F | N | N | ND | ND | 3% | / | / | / | Healthy |  |
| 2 | 10191 | m.10191T\>C | T10191C\-F13 | T10191C\-F13\-Ⅱ1 | Fam | M | Y | Y | A | 42 y | 14% | 77% | / | / | Epilepsy, stroke\-like episodes, bilateral optic atrophy, cognitive decline, ataxia, peripheral neuropathy |  |
| 3 | 10191 | m.10191T\>C | T10191C\-F13 | T10191C\-F13\-Ⅱ2 | Fam | ND | N | N | ND | Forties | \<1% | / | / | / | Healthy |  |
| 4 | 10191 | m.10191T\>C | T10191C\-F13 | T10191C\-F13\-Ⅱ3 | Fam | ND | N | N | ND | Forties | \<1% | / | / | / | Healthy |  |

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