A3243G-F438

**Figure 1\. Pedigree diagram for family A3243G\-F438\.**

![](/media/202607/A3243G-F438-pedigree_20260701031152018594.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\-F438 | Japan | MELAS with stroke\-like episodes | 0 | 1 | 2008 | [17664050](https://pubmed.ncbi.nlm.nih.gov/17664050/) | Patients 2 and 3 are siblings/brothers and both are A3243G\-positive affected MELAS patients. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F438 from Japan with melas with stroke\-like episodes. 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, stroke\-like episodes.

# 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\-F438 | A3243G\-F438\-P2 | Fam | M | Y | Y | ND | 19 | / | / | / | 56%(ND) | MELAS; Stroke\-like episodes | Patient 2; Table 1 reports A3243G 56% but does not specify tissue; brother/sibling of Patient 3 |
| 2 | 3243 | m.3243A\>G | A3243G\-F438 | A3243G\-F438\-P3 | Fam | M | N | Y | ND | 16 | / | / | / | 65%(ND) | MELAS; Stroke\-like episodes | Patient 3; Table 1 reports A3243G 65% but does not specify tissue; brother/sibling of Patient 2 |

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