C10134A-F1

**Figure 1\. Pedigree diagram for family C10134A\-F1\.**

![](/media/202606/20260629232219377316.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 | 10134 | m.10134C\>A | C10134A\-F1 | Australia | Leigh syndrome | 1 | 0 | 2014 | [25118196](https://pubmed.ncbi.nlm.nih.gov/25118196/) |  |

The **m.10134C\>A** variant in MT\-ND3 was reported in family C10134A\-F1 from Australia with leigh syndrome. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, developmental delay, regression, abnormal gait, delayed speech.

# 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 | 10134 | m.10134C\>A | C10134A\-F1 | C10134A\-F1\-Ⅰ1 | Fam | F | N | N | A | ND | 1% | / | / | / | Healthy |  |
| 2 | 10134 | m.10134C\>A | C10134A\-F1 | C10134A\-F1\-Ⅱ1 | Fam | F | Y | Y | A | 5 y | 99\.9% | Homo | / | Homo(F); Homo(liver) | Leigh syndrome, developmental delay/regression, abnormal gait, delayed speech |  |

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