G3635A-F14

**Figure 1\. Pedigree diagram for family G3635A\-F14\.**

![](/media/202607/20260721125810380276.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\-F14 | China | LHON | 18 | 1 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ518; haplogroup F1a1 |

The **m.3635G\>A** variant in MT\-ND1 was reported in family G3635A\-F14 from China with lhon. The pedigree record reported 18 unaffected and 1 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, profound 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\-F14 | G3635A\-F14\-IV1 | Fam | M | Y | Y | A | 20 | Homo | / | / | / | LHON; profound worst; profound recovery | Onset 20; haplogroup F1a1 |

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