C3254G-F1

**Figure 1\. Pedigree diagram for family C3254G\-F1\.**

![](/media/202606/20260630204526915290.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3254 | m.3254C\>G | C3254G\-F1 | Japan | Myopathy, cardiomyopathy | 1 | 0 | 1997 | [9270605](https://pubmed.ncbi.nlm.nih.gov/9270605/) |  |

The **m.3254C\>G** variant in MT\-TL1 was reported in family C3254G\-F1 from Japan with myopathy, cardiomyopathy. 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 exertional dyspnea, leg edema, cardiomegaly, muscle weakness, muscle cramps, easy fatigability, migraine, muscular atrophy.

# 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 | 3254 | m.3254C\>G | C3254G\-F1 | C3254G\-F1\-I2 | Uninf | F | N | N | A | 48 | 26% | / | / | / | Mild cardiac dysfunction, easy fatigability |  |
| 2 | 3254 | m.3254C\>G | C3254G\-F1 | C3254G\-F1\-II2 | Fam | M | Y | Y | A | 15 | 40% | 90% | / | 72% (Heart) | Exertional dyspnea, leg edema, cardiomegaly, muscle weakness, muscle cramps, easy fatigability, migraine, muscular atrophy, proximal limb weakness |  |

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