C4171A-F1

**Figure 1\. Pedigree diagram for family C4171A\-F1\.**

![](/media/202606/20260630031656797698.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4171 | m.4171C\>A | C4171A\-F1 | Korea | LHON | 9 | 3 | 2002 | [12112111](https://pubmed.ncbi.nlm.nih.gov/12112111/) |  |

The **m.4171C\>A** variant in MT\-ND1 was reported in family C4171A\-F1 from Korea with lhon. The pedigree record reported 9 unaffected and 3 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was lhon.

# 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 | 4171 | m.4171C\>A | C4171A\-F1 | C4171A\-F1\-II2 | Fam | F | N | Y | A | 67 | Homo | Homo | Homo | / | LHON |  |
| 2 | 4171 | m.4171C\>A | C4171A\-F1 | C4171A\-F1\-III1 | Fam | M | N | Y | A | 46 | Homo | Homo | Homo | / | LHON |  |
| 3 | 4171 | m.4171C\>A | C4171A\-F1 | C4171A\-F1\-IV3 | Fam | M | Y | Y | A | 17 | Homo | Homo | Homo | / | LHON |  |

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