A3243G-F153

**Figure 1\. Pedigree diagram for family A3243G\-F153\.**

![](/media/202607/A3243G-F153-pedigree_20260701025326849703.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\-F153 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 7 | 4 | 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\-F153 from United Kingdom with mitochondrial encephalomyopathy; melas/cpeo/merrf/midd spectrum. The pedigree record reported 7 unaffected and 4 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 0/12 listed carriers; 5/12 carriers were affected, and the main clinical manifestation among affected carriers was dbdfc, r, dbdf, db, 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\-F153 | A3243G\-F153\-IV5 | Fam | ND | Y | Y | D | 43 | / | / | / | / | DbDfC | Index patient is target\-positive by study inclusion; numeric load not visible in Table 1 row. Feature abbreviations follow article legend. |
| 2 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV3 | Fam | F | N | Y | ND | 54 | 11% | / | / | / | R | Table 1\. Feature abbreviations follow article legend. |
| 3 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV4 | Fam | F | N | Y | ND | 49 | 15% | 57% | / | / | DbDf | Table 1\. Feature abbreviations follow article legend. |
| 4 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV6 | Fam | ND | N | Y | ND | 52 | 12% | / | / | / | Db | Table 1\. Feature abbreviations follow article legend. |
| 5 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV8 | Fam | ND | N | N | ND | 58 | 4% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 6 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V1 | Fam | F | N | Y | ND | 33 | 15% | / | / | / | Df | Table 1\. Feature abbreviations follow article legend. |
| 7 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V2 | Fam | F | N | N | ND | 30 | 11% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 8 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V3 | Fam | F | N | N | ND | 28 | 8% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 9 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V4 | Fam | F | N | N | ND | 27 | 24% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 10 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V5 | Fam | M | N | N | ND | 24 | 31% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 11 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V8 | Fam | ND | N | N | ND | 26 | 13% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 12 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V9 | Fam | ND | N | N | ND | 26 | 13% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |

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