A13045G-F1

**Figure 1\. Pedigree diagram for family A13045G\-F1\.**

![](/media/202607/A13045G-F1-pedigree_20260701012723933648.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 | 13045 | m.13045A\>G | A13045G\-F1 | Spain | MELAS | 0 | 1 | 2020 | [31639449](https://pubmed.ncbi.nlm.nih.gov/31639449/) | Variant detected in targeted tissues; blood can be negative.; Mother\-daughter family; Case report, pedigree, and tissue heteroplasmy table.; Spain; Spanish mother\-daughter family; Corrected old erroneous G13590A entry to A13045G based on PMID 31639449 full text. |

The **m.13045A\>G** variant in MT\-ND5 was reported in family A13045G\-F1 from Spain 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 melas, onset about 54 years.

# 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 | 13045 | m.13045A\>G | A13045G\-F1 | A13045G\-F1\-I2 | Uninf | F | N | Y | A | 66 | 0% | 50% | / | / | MELAS; onset about 54 years | Patient 1; onset around 54 |
| 2 | 13045 | m.13045A\>G | A13045G\-F1 | A13045G\-F1\-II1 | Fam | F | Y | Y | A | 41 | 0% | 84% | 5% | 0%(H); 0%(BM) | MELAS | Patient 2 |

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