G13513A-F6

**Figure 1\. Pedigree diagram for family G13513A\-F6\.**

![](/media/202607/G13513A-F6-pedigree_20260701013521923333.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\-F6 | France | MELAS | 0 | 1 | 2000 | [10908920](https://pubmed.ncbi.nlm.nih.gov/10908920/) |  |

The **m.13513G\>A** variant in MT\-ND5 was reported in family G13513A\-F6 from France with melas. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was recurrent stroke\-like episodes and brain hematomas, seizures, deafness, ataxia, spastic quadriparesis, cataract, fatal hemorrhage, sensorineural deafness reported in one of two sons..

# 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\-F6 | G13513A\-F6\-I1 | Uninf | F | Y | Y | D | 44 y | 8% | 77% | / | / | Recurrent stroke\-like episodes and brain hematomas, seizures, deafness, ataxia, spastic quadriparesis, cataract; fatal hemorrhage |  |
| 2 | 13513 | m.13513G\>A | G13513A\-F6 | G13513A\-F6\-II1 | Fam | M | N | Y | ND | ND | / | / | / | / | Sensorineural deafness reported in one of two sons. |  |

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