A3243G-F147

**Figure 1\. Pedigree diagram for family A3243G\-F147\.**

![](/media/202607/A3243G-F147-pedigree_20260701025038837120.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\-F147 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 1 | 0 | 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\-F147 from United Kingdom with mitochondrial encephalomyopathy; melas/cpeo/merrf/midd spectrum. 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 omdfron.

# 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\-F147 | A3243G\-F147\-P1 | Fam | ND | Y | Y | ND | 60 | 13% | 44% | / | / | OMDfROn | Table 1\. Feature abbreviations follow article legend. |
| 2 | 3243 | m.3243A\>G | A3243G\-F147 | A3243G\-F147\-I2 | Uninf | F | N | N | ND | 58 | 17% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).