G5877A-F1

**Figure 1\. Pedigree diagram for family G5877A\-F1\.**

![](/media/202606/20260622172636662245.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5877 | m.5877G\>A | G5877A\-F1 | Japan | CPEO | 2 | 1 | 2001 | [11594340](https://pubmed.ncbi.nlm.nih.gov/11594340/) |  |

The **m.5877G\>A** variant in MT\-TY was reported in family G5877A\-F1 from Japan with cpeo. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was ptosis, moderate degrees of ptosis, external ophthalmoplegia, proximal muscle weakness, episodic diarrhoea, atrioventricular conduction block.

# 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 | 5877 | m.5877G\>A | G5877A\-F1 | G5877A\-F1\-I2 | Uninf | F | N | Y | D | ND | \+ | / | / | / | Ptosis |  |
| 2 | 5877 | m.5877G\>A | G5877A\-F1 | G5877A\-F1\-II2 | Fam | F | Y | Y | A | 45 | 0\.7% | 73% | / | / | Moderate degrees of ptosis, external ophthalmoplegia, proximal muscle weakness, episodic diarrhoea, atrioventricular conduction block |  |
| 3 | 5877 | m.5877G\>A | G5877A\-F1 | G5877A\-F1\-III1 | Fam | M | N | N | A | 21 | \+ | / | / | \+(Umbilical cord) | Healthy |  |
| 4 | 5877 | m.5877G\>A | G5877A\-F1 | G5877A\-F1\-III2 | Fam | F | N | N | A | 19 | \+ | / | / | \+(Umbilical cord) | Healthy |  |

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