A3243G-F398

**Figure 1\. Pedigree diagram for family A3243G\-F398\.**

![](/media/202607/A3243G-F398-pedigree_20260701030958757213.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\-F398 | Japan | MELAS with exercise fatigue, progressive muscle weakness and stroke\-like episode | 0 | 0 | 2005 | [16290150](https://pubmed.ncbi.nlm.nih.gov/16290150/) | Patient and mother reported A3243G\-positive; tissue/load not reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F398 from Japan with melas with exercise fatigue, progressive muscle weakness and stroke\-like episode. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was melas, exercise fatigue and progressive muscle weakness from age 3, inability to stand by 5 yr 1 mo, ragged\-red fibers, complex partial seizure, headache, photopsia, vomiting and suspected stroke\-like episode.

# 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\-F398 | A3243G\-F398\-P1 | Fam | F | Y | Y | A | 7 | / | / | / | / | MELAS; Exercise fatigue and progressive muscle weakness from age 3, inability to stand by 5 yr 1 mo, ragged\-red fibers, complex partial seizure, headache/photopsia/vomiting and suspected stroke\-like episode | mtDNA analysis revealed A3243G; exact tissue and load not reported. |
| 2 | 3243 | m.3243A\>G | A3243G\-F398 | A3243G\-F398\-P2 | Fam | F | N | ND | ND | ND | / | / | / | / | Clinical phenotype not described | Mother's mtDNA analysis revealed A3243G; tissue and load not reported. |

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