A5670G-F1

**Figure 1\. Pedigree diagram for family A5670G\-F1\.**

![](/media/202606/20260622162319038419.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5670 | m.5670A\>G | A5670G\-F1 | Finland | Myopathy, NAD\+ deficiency | 2 | 0 | 2024 | [39173541](https://pubmed.ncbi.nlm.nih.gov/39173541/) |  |

The **m.5670A\>G** variant in 5670 was reported in family A5670G\-F1 from Finland with myopathy, nad\+ deficiency. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was myopathy, nad\+ deficiency.

# 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 | 5670 | m.5670A\>G | A5670G\-F1 | A5670G\-F1\-I2 | Uninf | F | N | N | A | ND | 20% | / | 30% | / | Healthy |  |
| 2 | 5670 | m.5670A\>G | A5670G\-F1 | A5670G\-F1\-II1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 5670 | m.5670A\>G | A5670G\-F1 | A5670G\-F1\-II2 | Fam | M | Y | Y | D | 4 | 52% | 88% | 91% | / | Myopathy, NAD\+ deficiency |  |

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