A3243G-F29

**Figure 1\. Pedigree diagram for family A3243G\-F29\.**

![](/media/202607/A3243G-F29-pedigree_20260701030349283780.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\-F29 | Japan | MELAS / mitochondrial encephalomyopathy | 1 | 0 | 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\-F29 from Japan with melas / mitochondrial encephalomyopathy. The pedigree record reported 1 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, mitochondrial encephalomyopathy with cardiomyopathy, seizures, dementia, short stature and stroke\-like features.

# 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\-F29 | A3243G\-F29\-P1 | Fam | F | N | N | A | ND | 12% | / | / | / | Healthy | Fig.1 reports B12; Healthy |
| 2 | 3243 | m.3243A\>G | A3243G\-F29 | A3243G\-F29\-P2 | Fam | M | Y | Y | A | 20 | 50% | 73% | / | / | MELAS / mitochondrial encephalomyopathy with cardiomyopathy, seizures, dementia, short stature and stroke\-like features | Fig.1 reports M73/B50; Table identifies proband. |

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