T13094C-F14

**Figure 1\. Pedigree diagram for family T13094C\-F14\.**

![](/media/202607/T13094C-F14-pedigree_20260701013810934498.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 | 13094 | m.13094T\>C | T13094C\-F14 | international | MELAS/Leigh syndrome | 1 | 0 | 2018 | [29506874](https://pubmed.ncbi.nlm.nih.gov/29506874/) | Family 8; Tables 1\-2; International cohort; individual country not consistently stated in main text. |

The **m.13094T\>C** variant in MT\-ND5 was reported in family T13094C\-F14 from international with melas/leigh syndrome. 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 melas, leigh, patent foramen ovale and myoclonus, onset 34 years, deceased..

# 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 | 13094 | m.13094T\>C | T13094C\-F14 | T13094C\-F14\-II1 | Fam | F | Y | Y | D | 35 years | / | 83% | / | / | MELAS/Leigh, patent foramen ovale and myoclonus; onset 34 years; deceased. | Table 1/2; Source: P8 |
| 2 | 13094 | m.13094T\>C | T13094C\-F14 | T13094C\-F14\-I2 | Fam | F | N | N | A | 70s | 0% | / | 6% | / | Healthy | Table 1/2; Source: P8\.1 mother; Mutation positive only in urine. |

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