T9478C-F2

**Figure 1\. Pedigree diagram for family T9478C\-F2\.**

![](/media/202606/bdc08786b6bf4480914b81b2126cd8e33715.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9478 | m.9478T\>C | T9478C\-F2 | Tunisia | Leigh syndrome | 0 | 1 | 2012 | [23301511](https://pubmed.ncbi.nlm.nih.gov/23301511/) |  |

The **m.9478T\>C** variant in MT\-CO3 was reported in family T9478C\-F2 from Tunisia with leigh syndrome. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, elevated lactate reported groupwise, bilateral putamen mri hyperintensities, neurologic abnormalities.

# 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 | 9478 | m.9478T\>C | T9478C\-F2 | T9478C\-F2\-I1 | Uninf | ND | ND | Y | ND | ND | \+ | / | / | / | Leigh syndrome; elevated lactate reported groupwise; bilateral putamen MRI hyperintensities; neurologic abnormalities |  |
| 2 | 9478 | m.9478T\>C | T9478C\-F2 | T9478C\-F2\-II1 | Fam | ND | ND | Y | ND | ND | \+ | / | / | / | Leigh syndrome; elevated lactate reported groupwise; bilateral putamen MRI hyperintensities; neurologic abnormalities |  |

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