T12706C-F6

**Figure 1\. Pedigree diagram for family T12706C\-F6\.**

![](/media/202607/T12706C-F6-pedigree_20260701013709098514.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 | 12706 | m.12706T\>C | T12706C\-F6 | Czech Republic | MELAS/stroke\-like | 1 | 0 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P5 family; Table 1; maternal testing paragraph.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |

The **m.12706T\>C** variant in MT\-ND5 was reported in family T12706C\-F6 from Czech Republic with melas/stroke\-like. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was wernicke aphasia, melas, stroke\-like phenotype.

# 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 | 12706 | m.12706T\>C | T12706C\-F6 | T12706C\-F6\-II1 | Fam | ND | Y | Y | D | onset 17 y; died 42 y | 3% | 83% | 47% | / | Wernicke aphasia; MELAS/stroke\-like phenotype | Table 1 and text.; Source: P5 |
| 2 | 12706 | m.12706T\>C | T12706C\-F6 | T12706C\-F6\-I2 | Fam | F | N | N | A | ND | / | / | / | Positive(ND) | Healthy | Same mtDNA mutation found in mother of P5\.; Results text: six mothers including P5 were positive.; Source: P5 mother |

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