A3243G-F134

**Figure 1\. Pedigree diagram for family A3243G\-F134\.**

![](/media/202607/A3243G-F134-pedigree_20260701025004114791.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\-F134 | United Kingdom | A3243G mitochondrial disease | 1 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Case 119 plus asymptomatic mother with small percentage mutant mtDNA in biopsied muscle. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F134 from United Kingdom with a3243g mitochondrial disease. 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 seizures, delayed milestones, intellectual decline, strokes, severe dementia, short stature.

# 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\-F134 | A3243G\-F134\-P119 | Fam | F | ND | Y | A | 19 | / | 95% | / | / | Seizures, delayed milestones, intellectual decline, strokes, severe dementia; Short stature | Case 74 percentage reported from blood; others from muscle in Table 2\.; 119; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 2 | 3243 | m.3243A\>G | A3243G\-F134 | A3243G\-F134\-P2 | Fam | F | N | N | ND | ND | / | small percentage | / | / | Healthy | Mother of Case 119; harboured a small percentage of mutant mtDNA in biopsied muscle; exact percentage not reported; Healthy |

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