A3243G-F169

**Figure 1\. Pedigree diagram for family A3243G\-F169\.**

![](/media/202607/A3243G-F169-pedigree_20260701025524011751.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\-F169 | Spain | Exercise intolerance, lactic acidosis, ragged\-red fibers, asymptomatic carriers | 2 | 2 | 1995 | [7732778](https://pubmed.ncbi.nlm.nih.gov/7732778/) | Pedigree B; blood and muscle proportions are shown in Figure/Table 1\. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F169 from Spain with exercise intolerance, lactic acidosis, ragged\-red fibers, asymptomatic carriers. 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 mild exercise intolerance and weakness, exercise intolerance and weakness, lactic acidosis, ragged\-red fibers.

# 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\-F169 | A3243G\-F169\-I1 | Uninf | F | N | N | A | 85 | 40% | / | / | / | Healthy | Blood alone was analyzed in Pedigree B I\-1; Figure/Table 1 reports B\=40%; Asymptomatic mutation carrier |
| 2 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-II1 | Fam | F | N | Y | A | 58 | 60% | / | / | / | Mild exercise intolerance and weakness | Proband's mother; blood alone was analyzed; Figure/Table 1 reports B\=60%. |
| 3 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-II3 | Fam | M | N | Y | A | 55 | 60% | / | / | / | Mild exercise intolerance and weakness | Maternal uncle; blood alone was analyzed; Figure/Table 1 reports B\=60%. |
| 4 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-III1 | Fam | M | Y | Y | A | 27 | 90% | 90% | / | / | Exercise intolerance and weakness, lactic acidosis, ragged\-red fibers | Propositus; both blood and muscle were studied; Figure/Table 1 reports B\=90% and M\=90%. |
| 5 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-III2 | Fam | M | N | N | A | 21 | 70% | / | / | / | Healthy | Brother of the propositus; blood alone was analyzed; Figure/Table 1 reports B\=70%; Asymptomatic mutation carrier |

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