A3243G-F31

**Figure 1\. Pedigree diagram for family A3243G\-F31\.**

![](/media/202607/A3243G-F31-pedigree_20260701030441384872.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\-F31 | Japan | MELAS / mitochondrial encephalomyopathy | 0 | 2 | 1992 | [1370535](https://pubmed.ncbi.nlm.nih.gov/1370535/) | Fig.1 pedigree and mutant loads reviewed; spouse B0 records excluded. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F31 from Japan with melas / mitochondrial encephalomyopathy. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was short, slender maternal aunt with hearing difficulty, mother diagnosed with multiple sclerosis, clinical mitochondrial features reported in family text, melas, seizures, quadriplegia, walking difficulty.

# 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\-F31 | A3243G\-F31\-P1 | Fam | F | N | Y | A | ND | 18% | / | / | / | Short/slender maternal aunt with hearing difficulty | Fig.1 reports B18; Table MA. |
| 2 | 3243 | m.3243A\>G | A3243G\-F31 | A3243G\-F31\-P2 | Fam | F | N | Y | A | ND | 9% | / | / | / | Mother diagnosed with multiple sclerosis; Clinical mitochondrial features reported in family text | Fig.1 reports B9\. |
| 3 | 3243 | m.3243A\>G | A3243G\-F31 | A3243G\-F31\-P3 | Fam | M | Y | Y | A | 6 | 70% | 68% | / | / | MELAS; Seizures, quadriplegia, walking difficulty, vomiting, lactic acidosis | Fig.1 reports M68/B70\. |

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