A3243G-F54

**Figure 1\. Pedigree diagram for family A3243G\-F54\.**

![](/media/202607/A3243G-F54-pedigree_20260701031611656746.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F54 | USA | MELAS | 0 | 1 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Non\-figure Table1/Table2 maternal\-relative link. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F54 from USA with melas. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was melas, oligosymptomatic sister.

# 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 | 3243 | m.3243A\>G | A3243G\-F54 | A3243G\-F54\-P1 | Fam | F | Y | Y | ND | 38 | / | 92% | / | / | MELAS | Table1 patient16\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F54 | A3243G\-F54\-P2 | Fam | F | N | Y | ND | 30 | / | 89% | / | / | Oligosymptomatic sister | Table2 patient24; text identifies the remaining non\-figure relative as one sister. |

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