G13513A-F10

**Figure 1\. Pedigree diagram for family G13513A\-F10\.**

![](/media/202607/G13513A-F10-pedigree_20260701013346772058.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\-F10 | France | Leigh\-like syndrome | 2 | 0 | 2003 | [12624137](https://pubmed.ncbi.nlm.nih.gov/12624137/) |  |

The **m.13513G\>A** variant in MT\-ND5 was reported in family G13513A\-F10 from France with leigh\-like 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, 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\-F10 | G13513A\-F10\-II1 | Fam | M | Y | Y | ND | 24 months | high in lymphocytes, not quantified | \~90% | / | 60%(F) | Leigh syndrome / MELAS\-like encephalopathy | Patient 3 |
| 2 | 13513 | m.13513G\>A | G13513A\-F10 | G13513A\-F10\-I1 | Uninf | F | N | N | ND | ND | 5\-20% | / | / | / | Healthy |  |
| 3 | 13513 | m.13513G\>A | G13513A\-F10 | G13513A\-F10\-II2 | Fam | F | N | N | A | older sister | / | / | / | / | Healthy |  |

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