G13513A-F1

**Figure 1\. Pedigree diagram for family G13513A\-F1\.**

![](/media/202607/G13513A-F1-pedigree_20260701013327414122.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\-F1 | United States | MELAS | 1 | 0 | 1997 | [9299505](https://pubmed.ncbi.nlm.nih.gov/9299505/) |  |

The **m.13513G\>A** variant in MT\-ND5 was reported in family G13513A\-F1 from United States with melas. 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 childhood hearing loss, cataract, seizures, multiple strokes, myoclonus, aphasia, cortical blindness, headaches.

# 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\-F1 | G13513A\-F1\-II1 | Fam | M | Y | Y | D | 43 y presentation; died 45 y | 10% | 51% | / | 34%(Kidney); 53%(Heart); 25%(Liver); 57%(Cerebellum); 54%(Cerebrum frontal lobe) | Childhood hearing loss; cataract; seizures; multiple strokes; myoclonus; aphasia; cortical blindness; headaches; aspiration pneumonia death | High lactate; RRF. |
| 2 | 13513 | m.13513G\>A | G13513A\-F1 | G13513A\-F1\-II2 | Fam | F | N | N | A | ND | \<5% | / | / | / | Healthy |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).