G4284A-F2

**Figure 1\. Pedigree diagram for family G4284A\-F2\.**

![](/media/202607/G4284A-F2-pedigree_20260701023227269695.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4284 | m.4284G\>A | G4284A\-F2 | Germany | Myoclonus, epilepsy, ataxia, cognitive decline, learning disability | 7 | 0 | 2011 | [21766266](https://pubmed.ncbi.nlm.nih.gov/21766266/) |  |

The **m.4284G\>A** variant in MT\-TI was reported in family G4284A\-F2 from Germany with myoclonus, epilepsy, ataxia, cognitive decline, learning disability. The pedigree record reported 7 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was myoclonus, epilepsy, ataxia, cognitive decline, learning disability.

# 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 | 4284 | m.4284G\>A | G4284A\-F2 | G4284A\-F2\-I2 | Uninf | F | N | N | A | ND | 20% | / | / | / | Healthy |  |
| 2 | 4284 | m.4284G\>A | G4284A\-F2 | G4284A\-F2\-II1 | Fam | F | Y | Y | A | 12 | 80% | 100% | / | / | Myoclonus, epilepsy, ataxia, cognitive decline, learning disability |  |

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