G4132A-F1

**Figure 1\. Pedigree diagram for family G4132A\-F1\.**

![](/media/202606/20260630034157777066.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4132 | m.4132G\>A | G4132A\-F1 | USA | Familial NA\-AION | 0 | 5 | 2007 | [17454741](https://pubmed.ncbi.nlm.nih.gov/17454741/) |  |

The **m.4132G\>A** variant in MT\-ND1 was reported in family G4132A\-F1 from USA with familial na\-aion. The pedigree record reported 0 unaffected and 5 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in all listed carriers; 6/6 carriers were affected, and the main clinical manifestation among affected carriers was na\-aion.

# 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 | 4132 | m.4132G\>A | G4132A\-F1 | G4132A\-F1\-IV1 | Fam | M | N | Y | A | ND | Homo | / | / | / | NA\-AION |  |
| 2 | 4132 | m.4132G\>A | G4132A\-F1 | G4132A\-F1\-IV3 | Fam | M | N | Y | A | ND | Homo | / | / | / | NA\-AION |  |
| 3 | 4132 | m.4132G\>A | G4132A\-F1 | G4132A\-F1\-IV4 | Fam | M | N | Y | A | ND | Homo | / | / | / | NA\-AION |  |
| 4 | 4132 | m.4132G\>A | G4132A\-F1 | G4132A\-F1\-IV6 | Fam | M | N | Y | A | ND | Homo | / | / | / | NA\-AION |  |
| 5 | 4132 | m.4132G\>A | G4132A\-F1 | G4132A\-F1\-IV8 | Fam | M | N | Y | A | ND | Homo | / | / | / | NA\-AION |  |
| 6 | 4132 | m.4132G\>A | G4132A\-F1 | G4132A\-F1\-IV12 | Fam | M | Y | Y | A | 58 | Homo | / | / | / | NA\-AION |  |

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