G3635A-F12

**Figure 1\. Pedigree diagram for family G3635A\-F12\.**

![](/media/202607/20260721125519954086.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\-F12 | China | LHON | 23 | 4 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ516; haplogroup R11a |

The **m.3635G\>A** variant in MT\-ND1 was reported in family G3635A\-F12 from China with lhon. The pedigree record reported 23 unaffected and 4 affected maternal relatives, and the carrier table includes 1 listed carriers. Homoplasmy was reported in all listed carriers; 1/1 carriers were affected, and the main clinical manifestation among affected carriers was lhon, severe worst, profound recovery.

# 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\-F12 | G3635A\-F12\-III13 | Fam | M | Y | Y | A | 44 | Homo | / | / | / | LHON; severe worst; profound recovery | Onset 24; haplogroup R11a |

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