A3243G-F148

**Figure 1\. Pedigree diagram for family A3243G\-F148\.**

![](/media/202607/A3243G-F148-pedigree_20260701025047547453.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\-F148 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 2 | 2 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F148 from United Kingdom with mitochondrial encephalomyopathy; melas/cpeo/merrf/midd spectrum. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was astsdfdbr, df.

# 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\-F148 | A3243G\-F148\-III2 | Fam | ND | Y | Y | D | 27 | 27% | / | / | / | AStSDfDbR | Table 1\. Feature abbreviations follow article legend. |
| 2 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-II2 | Fam | F | N | Y | ND | 49 | 17% | / | / | / | Df | Table 1\. Feature abbreviations follow article legend. |
| 3 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-III1 | Fam | F | N | Y | ND | 32 | 23% | / | / | / | Df | Table 1\. Feature abbreviations follow article legend. |
| 4 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-III3 | Fam | F | N | N | ND | 25 | 18% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 5 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-III5 | Fam | ND | N | N | ND | 21 | 36% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |

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