G5631A-F1

**Figure 1\. Pedigree diagram for family G5631A\-F1\.**

![](/media/202606/20260625140320710759.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5631 | m.5631G\>A | G5631A\-F1 | Germany | Isolated mitochondrial myopathy | 1 | 0 | 2015 | [25873012](https://pubmed.ncbi.nlm.nih.gov/25873012/) |  |

The **m.5631G\>A** variant in MT\-TA was reported in family G5631A\-F1 from Germany with isolated mitochondrial myopathy. 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 distal and proximal paresis, mild symmetrical ptosis.

# 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 | 5631 | m.5631G\>A | G5631A\-F1 | G5631A\-F1\-II1 | Fam | F | Y | Y | A | 29 | 77% | 92% | 69% | 77% (H); 44% (Buccal epithelial cells) | Distal and proximal paresis; mild symmetrical ptosis |  |
| 2 | 5631 | m.5631G\>A | G5631A\-F1 | G5631A\-F1\-I2 | Uninf | F | N | N | A | ND | 8% | / | 4% | 6%(BM) | Healthy |  |

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