G13513A-F69

**Figure 1\. Pedigree diagram for family G13513A\-F69\.**

![](/media/202607/G13513A-F69-pedigree_20260701013554823756.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\-F69 | Czech Republic | LHON/MELAS overlap | 2 | 0 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P10 family; Table 1 and maternal testing paragraph.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |

The **m.13513G\>A** variant in MT\-ND5 was reported in family G13513A\-F69 from Czech Republic with lhon/melas overlap. 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 optic neuropathy, lhon, melas overlap.

# 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\-F69 | G13513A\-F69\-II1 | Fam | ND | Y | Y | A | onset 6 y; alive 20\.5 y | 44% | 48% | 81% | 40%(F); 66%(H); 55%(BM) | Optic neuropathy; LHON/MELAS overlap | Table 1\.; Source: P10 |
| 2 | 13513 | m.13513G\>A | G13513A\-F69 | G13513A\-F69\-I2 | Fam | F | N | N | A | ND | / | / | / | Positive(ND) | Healthy | Maternal testing paragraph.; Source: P10 mother |
| 3 | 13513 | m.13513G\>A | G13513A\-F69 | G13513A\-F69\-II2 | Fam | F | N | N | A | ND | / | / | / | Positive(ND) | Healthy | Maternal testing paragraph.; Source: P10 sister |

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