A3243G-F135

**Figure 1\. Pedigree diagram for family A3243G\-F135\.**

![](/media/202607/A3243G-F135-pedigree_20260701025012838287.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\-F135 | United Kingdom | A3243G mitochondrial disease | 0 | 2 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Cases 21a, 21b, and 21c belong to the same family/pedigree; 21c is the daughter of 21a. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F135 from United Kingdom with a3243g mitochondrial disease. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was drop attacks, ataxia, cardiac failure, seizures, strokes, dementia, pseudo\-obstruction, ophthalmoparesis.

# 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\-F135 | A3243G\-F135\-P1 | Fam | F | ND | Y | D | 42 | / | 54% | / | / | Drop attacks, ataxia, cardiac failure, seizures, strokes, dementia, pseudo\-obstruction; Ophthalmoparesis, pigmentary retinopathy, deafness | Case 74 percentage reported from blood; others from muscle in Table 2\.; 21a; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 2 | 3243 | m.3243A\>G | A3243G\-F135 | A3243G\-F135\-P2 | Fam | M | ND | Y | D | 12 | / | 80% | / | / | Seizures, intellectual decline, ataxia, deafness, strokes, myoclonus, coma; Pigmentary retinopathy | Case 74 percentage reported from blood; others from muscle in Table 2\.; 21b; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 3 | 3243 | m.3243A\>G | A3243G\-F135 | A3243G\-F135\-P3 | Fam | F | ND | Y | A | 21 | / | 53% | / | / | Limb weakness and fatigue | Case 74 percentage reported from blood; others from muscle in Table 2\.; 21c; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |

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