G13513A-F60

**Figure 1\. Pedigree diagram for family G13513A\-F60\.**

![](/media/202607/G13513A-F60-pedigree_20260701013535841804.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\-F60 | USA | Leigh syndrome | 2 | 0 | 2016 | [27919073](https://pubmed.ncbi.nlm.nih.gov/27919073/) | Family 3; Family 3 text/table.; USA inferred from OHSU/US clinical reproductive medicine context; family nationality not explicitly stated. |

The **m.13513G\>A** variant in MT\-ND5 was reported in family G13513A\-F60 from USA with leigh syndrome. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome.

# 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\-F60 | G13513A\-F60\-II1 | Fam | M | Y | Y | A | 12 y | 56% | / | 97% | 86%(F) | Leigh syndrome | Family 3 description.; Source: Affected boy |
| 2 | 13513 | m.13513G\>A | G13513A\-F60 | G13513A\-F60\-II2 | Fam | M | N | N | A | 19 y | 10% | / | 23% | 14%(F) | Healthy | Family 3 description.; Source: Brother |
| 3 | 13513 | m.13513G\>A | G13513A\-F60 | G13513A\-F60\-I2 | Fam | F | N | N | A | 36 y | 3% | / | 39% | 98%(F) | Healthy | Family 3 description.; Source: Mother |

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