T13094C-F7

**Figure 1\. Pedigree diagram for family T13094C\-F7\.**

![](/media/202607/T13094C-F7-pedigree_20260701013838135919.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\-F7 | international | LHON/MELAS/Leigh spectrum | 0 | 2 | 2018 | [29506874](https://pubmed.ncbi.nlm.nih.gov/29506874/) | Family 1; 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\-F7 from international with lhon/melas/leigh spectrum. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was lhon, melas, onset 17 years, deceased., leigh syndrome, onset 2 months, leigh, onset 10 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 | 13094 | m.13094T\>C | T13094C\-F7 | T13094C\-F7\-I2 | Uninf | F | Y | Y | D | 37 years | 0% | / | 55% | / | LHON/MELAS; onset 17 years; deceased. | P1 |
| 2 | 13094 | m.13094T\>C | T13094C\-F7 | T13094C\-F7\-II1 | Fam | M | N | Y | D | 9 months | / | 65% | / | / | Leigh syndrome; onset 2 months; deceased. | P1\.1 |
| 3 | 13094 | m.13094T\>C | T13094C\-F7 | T13094C\-F7\-II2 | Fam | F | N | Y | D | 14 years | 46% | 90% | 67% | / | MELAS/Leigh; onset 10 years; deceased. | P1\.2 |

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