G13513A-F9

**Figure 1\. Pedigree diagram for family G13513A\-F9\.**

![](/media/202607/G13513A-F9-pedigree_20260701013655199146.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13513 | m.13513G\>A | G13513A\-F9 | France | Leigh\-like syndrome | 1 | 0 | 2003 | [12624137](https://pubmed.ncbi.nlm.nih.gov/12624137/) |  |

The **m.13513G\>A** variant in MT\-ND5 was reported in family G13513A\-F9 from France with leigh\-like syndrome. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, melas\-like encephalopathy.

# 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 | 13513 | m.13513G\>A | G13513A\-F9 | G13513A\-F9\-II1 | Fam | M | Y | Y | ND | 21 months | / | \~90% | / | 80\-90%(F) | Leigh syndrome / MELAS\-like encephalopathy | Patient 2 |
| 2 | 13513 | m.13513G\>A | G13513A\-F9 | G13513A\-F9\-I1 | Uninf | F | N | N | ND | ND | 5\-20% | / | / | / | Healthy |  |

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