A5843G-F1

**Figure 1\. Pedigree diagram for family A5843G\-F1\.**

![](/media/202606/20260622172353890469.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5843 | m.5843A\>G | A5843G\-F1 | USA | Dilated cardiomyopathy, FSGS | 1 | 0 | 2003 | [14598342](https://pubmed.ncbi.nlm.nih.gov/14598342/) |  |

The **m.5843A\>G** variant in MT\-TY was reported in family A5843G\-F1 from USA with dilated cardiomyopathy, fsgs. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was dilated cardiomyopathy, fsgs, failure to thrive, midfacial hypoplasia and  
facial edema.

# 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 | 5843 | m.5843A\>G | A5843G\-F1 | A5843G\-F1\-I2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Migraine headaches |  |
| 2 | 5843 | m.5843A\>G | A5843G\-F1 | A5843G\-F1\-II1 | Fam | F | Y | Y | A | 9 | Homo | Homo | / | Homo(Renal tissue) | Dilated cardiomyopathy, FSGS, failure to thrive, midfacial hypoplasia and facial edema |  |

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