T14484C-F135

**Figure 1\. Pedigree diagram for family T14484C\-F135\.**

![](/media/202606/20260630180348064343.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14484 | m.14484T\>C | T14484C\-F135 | India | LHON\-plus | 1 | 0 | 2019 | [31776719](https://pubmed.ncbi.nlm.nih.gov/31776719/) |  |

The **m.14484T\>C** variant in MT\-ND6 was reported in family T14484C\-F135 from India with lhon\-plus. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was optic neuropathy, ptosis, dystonia, dysarthria, ataxia, recurrent transverse myelitis.

# 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 | 14484 | m.14484T\>C | T14484C\-F135 | T14484C\-F135\-II1 | Fam | M | Y | Y | A | 36 | Homo | / | / | Homo (F) | Optic neuropathy, ptosis, dystonia, dysarthria, ataxia, recurrent transverse myelitis | Also has MT\-ND4 m.11778G\>A in blood/fibroblast |
| 2 | 14484 | m.14484T\>C | T14484C\-F135 | T14484C\-F135\-I2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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