T3394C-F1

**Figure 1\. Pedigree diagram for family T3394C\-F1\.**

![](/media/202606/20260630034420960896.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3394 | m.3394T\>C | T3394C\-F1 | Japan | LHON\-plus / olivocerebellar degeneration | 0 | 2 | 2012 | [23091534](https://pubmed.ncbi.nlm.nih.gov/23091534/) | Carrying G11778A: blood 92% in III\-1 and 70% in II\-2\. |

The **m.3394T\>C** variant in MT\-ND1 was reported in family T3394C\-F1 from Japan with lhon\-plus / olivocerebellar degeneration. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was optic neuropathy, mild optic nerve, pons and cerebellum atrophy, no lhon\-plus symptoms, lhon\-plus with olivocerebellar degeneration, cerebellar ataxia, gaze palsy and dysarthria.

# 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 | 3394 | m.3394T\>C | T3394C\-F1 | T3394C\-F1\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Optic neuropathy; mild optic nerve, pons and cerebellum atrophy; no LHON\-plus symptoms | Carrying G11778A (blood 70%). |
| 2 | 3394 | m.3394T\>C | T3394C\-F1 | T3394C\-F1\-III1 | Fam | M | Y | Y | A | 37 | Homo | / | / | / | LHON\-plus with olivocerebellar degeneration, cerebellar ataxia, gaze palsy and dysarthria | Carrying G11778A (blood 92%). |

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