T10191C-F15

**Figure 1\. Pedigree diagram for family T10191C\-F15\.**

![](/media/202606/20260629232845594053.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\-F15 | Sweden | Dystonia | 1 | 0 | 2005 | [16044424](https://pubmed.ncbi.nlm.nih.gov/16044424/) |  |

The **m.10191T\>C** variant in MT\-ND3 was reported in family T10191C\-F15 from Sweden with dystonia. 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 leigh\-like syndrome, developmental delay, hypotonia, vomiting, feeding problems, dystonia, ophthalmoplegia, seizures.

# 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\-F15 | T10191C\-F15\-Ⅰ1 | Uninf | F | N | ND | ND | ND | 36% | / | / | / | Healthy |  |
| 2 | 10191 | m.10191T\>C | T10191C\-F15 | T10191C\-F15\-Ⅱ1 | Fam | F | Y | Y | A | 8\-22 mo | / | 97% | / | 97%(F) | Leigh\-like syndrome, developmental delay, hypotonia, vomiting, feeding problems, dystonia, ophthalmoplegia, seizures |  |

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