G4298A-F1

**Figure 1\. Pedigree diagram for family G4298A\-F1\.**

![](/media/202607/G4298A-F1-pedigree_20260701023315787838.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 | 4298 | m.4298G\>A | G4298A\-F1 | Italy | Rhabdomyolysis, myoglobinuria, myalgias, upper limb girdle weakness, unstable gait | 1 | 0 | 2004 | [16120360](https://pubmed.ncbi.nlm.nih.gov/16120360/) |  |

The **m.4298G\>A** variant in MT\-TI was reported in family G4298A\-F1 from Italy with rhabdomyolysis, myoglobinuria, myalgias, upper limb girdle weakness, unstable gait. 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 rhabdomyolysis, myoglobinuria, myalgias, upper limb girdle weakness, unstable gait.

# 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 | 4298 | m.4298G\>A | G4298A\-F1 | G4298A\-F1\-II1 | Fam | M | Y | Y | A | 38 | 1% | 48\.7% | / | / | Rhabdomyolysis, myoglobinuria, myalgias, upper limb girdle weakness, unstable gait |  |
| 2 | 4298 | m.4298G\>A | G4298A\-F1 | G4298A\-F1\-I2 | Uninf | F | N | N | A | ND | 1% | / | / | / | Healthy |  |

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