A3243G-F423

**Figure 1\. Pedigree diagram for family A3243G\-F423\.**

![](/media/202607/A3243G-F423-pedigree_20260701031042307110.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\-F423 | Brazil | MELAS with stroke\-like episodes | 3 | 0 | 2007 | [17664998](https://pubmed.ncbi.nlm.nih.gov/17664998/) | Fig.2 pedigree row for Patient 3 family. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F423 from Brazil with melas with stroke\-like episodes. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was melas with epileptic seizures from age 9, stroke\-like episodes, elevated lactate, rrf, sdh\+, cox\- muscle biopsy, died at age 15\.

# 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\-F423 | A3243G\-F423\-P1 | Fam | M | Y | Y | D | 15 at death | / | / | / | / | MELAS with epileptic seizures from age 9, stroke\-like episodes, elevated lactate, RRF/SDH\+/COX\- muscle biopsy; Died at age 15 | Fig.2 filled square; A3243G present in all tissues studied postmortem. |
| 2 | 3243 | m.3243A\>G | A3243G\-F423 | A3243G\-F423\-P2 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Fig.2 circle with A3243G PCR/RFLP mutant fragments; exact load not quantified; Asymptomatic female carrier in Fig.2 |
| 3 | 3243 | m.3243A\>G | A3243G\-F423 | A3243G\-F423\-P3 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Fig.2 circle with A3243G PCR/RFLP mutant fragments; exact load not quantified; Asymptomatic female carrier in Fig.2 |
| 4 | 3243 | m.3243A\>G | A3243G\-F423 | A3243G\-F423\-P5 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Fig.2 circle with A3243G PCR/RFLP mutant fragments; exact load not quantified; Asymptomatic female carrier in Fig.2 |

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