T14484C-F58

**Figure 1\. Pedigree diagram for family T14484C\-F58\.**

![](/media/202606/20260630180257602668.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\-F58 | Russia | LHON | 0 | 5 | 2005 | [16050984](https://pubmed.ncbi.nlm.nih.gov/16050984/) |  |

The **m.14484T\>C** variant in MT\-ND6 was reported in family T14484C\-F58 from Russia with lhon. The pedigree record reported 0 unaffected and 5 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 rapid bilateral painless central vision loss with central scotomas, onset 18y, no recovery reported, bilateral central vision loss, onset 47y, no diabetes deafness or neuromuscular disorder family history except blindness.

# 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\-F58 | T14484C\-F58\-III1 | Fam | M | Y | Y | A | 35 | Homo | / | / | / | Rapid bilateral painless central vision loss with central scotomas; onset 18y; no recovery reported | Original label III1probandpatient3; A9016G 93% (ND); carrying T4216C, G13708A and G15257A |
| 2 | 14484 | m.14484T\>C | T14484C\-F58 | T14484C\-F58\-II2 | Fam | F | N | Y | A | 56 | Homo | / | / | / | Bilateral central vision loss; onset 47y; no diabetes deafness or neuromuscular disorder family history except blindness | A9016G 93% (ND); carrying T4216C, G13708A and G15257A |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).