T13094C-F13

**Figure 1\. Pedigree diagram for family T13094C\-F13\.**

![](/media/202607/T13094C-F13-pedigree_20260701013757132179.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\-F13 | international | LHON/subclinical optic neuropathy | 1 | 1 | 2018 | [29506874](https://pubmed.ncbi.nlm.nih.gov/29506874/) | Family 7; 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\-F13 from international with lhon/subclinical optic neuropathy. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was lhon, onset 7 years., subclinical optic neuropathy, onset 6 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\-F13 | T13094C\-F13\-II1 | Fam | M | Y | Y | A | 21 years | 26% | / | / | / | LHON; onset 7 years. | Table 1/2; Source: P7 |
| 2 | 13094 | m.13094T\>C | T13094C\-F13 | T13094C\-F13\-II2 | Fam | M | N | Y | A | 20 years | 35% | / | / | / | Subclinical optic neuropathy; onset 6 years. | Table 1/2; Source: P7\.1 |
| 3 | 13094 | m.13094T\>C | T13094C\-F13 | T13094C\-F13\-I2 | Fam | F | N | N | A | 47 years | 7% | / | / | / | Healthy | Table 1/2; Source: P7\.2 mother |

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