G3635A-F1

**Figure 1\. Pedigree diagram for family G3635A\-F1\.**

![](/media/202606/20260630032727446834.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3635 | m.3635G\>A | G3635A\-F1 | China | LHON | 6 | 1 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source family Le0131 |

The **m.3635G\>A** variant in MT\-ND1 was reported in family G3635A\-F1 from China with lhon. The pedigree record reported 6 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was lhon.

# 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 | 3635 | m.3635G\>A | G3635A\-F1 | G3635A\-F1\-III1 | Fam | M | N | Y | A | 24 | Homo | / | / | / | LHON | Age is onset age |
| 2 | 3635 | m.3635G\>A | G3635A\-F1 | G3635A\-F1\-III2 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | LHON | Age is onset age |

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