T13091C-F1

**Figure 1\. Pedigree diagram for family T13091C\-F1\.**

![](/media/202607/T13091C-F1-pedigree_20260701013723194450.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 | 13091 | m.13091T\>C | T13091C\-F1 | Czech Republic | MELAS | 0 | 1 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P8 family; Table 1 and maternal testing text.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |

The **m.13091T\>C** variant in MT\-ND5 was reported in family T13091C\-F1 from Czech Republic 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 migraine, melas, repeated migraine attacks.

# 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 | 13091 | m.13091T\>C | T13091C\-F1 | T13091C\-F1\-II1 | Fam | ND | Y | Y | A | onset 10 y; alive 31 y | 4% | 61% | 52% | 12%(H); 30%(BM) | Migraine; MELAS | Table 1\.; Source: P8 |
| 2 | 13091 | m.13091T\>C | T13091C\-F1 | T13091C\-F1\-I2 | Fam | F | N | Y | A | ND | / | / | / | Positive(ND) | Repeated migraine attacks | Maternal testing paragraph.; Source: P8 mother |

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