G4450A-F2

**Figure 1\. Pedigree diagram for family G4450A\-F2\.**

![](/media/202606/20260622155459569559.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4450 | m.4450G\>A | G4450A\-F2 | Denmark | MELAS | 1 | 0 | 2015 | [25468263](https://pubmed.ncbi.nlm.nih.gov/25468263/) |  |

The **m.4450G\>A** variant in MT\-TM was reported in family G4450A\-F2 from Denmark with melas. The pedigree record reported 1 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 exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution.

# 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 | 4450 | m.4450G\>A | G4450A\-F2 | G4450A\-F2\-I2 | Uninf | F | N | N | A | ND | 0% | 0% | 0% | / | Healthy | Carrying A3242G |
| 2 | 4450 | m.4450G\>A | G4450A\-F2 | G4450A\-F2\-II1 | De novo | F | Y | Y | A | 10 | 0% | 67% | / | 0%(BM);10%(F)\_x000D\_ | exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution | Carrying A3242G |

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