A3243G-F304

**Figure 1\. Pedigree diagram for family A3243G\-F304\.**

![](/media/202607/A3243G-F304-pedigree_20260701030415426697.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\-F304 | United Kingdom | Two brothers with A3243G: recurrent strokes/migraine/diabetes/complex I deficiency in one and mild exercise intolerance with abnormal in vivo mitochondrial ATP production in the other | 0 | 1 | 2000 | [10716261](https://pubmed.ncbi.nlm.nih.gov/10716261/) | / |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F304 from United Kingdom with two brothers with a3243g: recurrent strokes/migraine/diabetes/complex i deficiency in one and mild exercise intolerance with abnormal in vivo mitochondrial atp production in the other. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was recurrent strokes, intractable migraine, diabetes mellitus, elevated lactate, ck, complex i deficiency, and mitochondrial dysfunction in vivo, mild exercise intolerance with abnormal in vivo mitochondrial atp production despite normal muscle histochemistry and respiratory chain activities.

# 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\-F304 | A3243G\-F304\-I1 | Uninf | M | Y | Y | A | 36 | / | 85% | / | / | Recurrent strokes, intractable migraine, diabetes mellitus, elevated lactate/CK, complex I deficiency, and mitochondrial dysfunction in vivo | Original label: Patient 1; index patient. |
| 2 | 3243 | m.3243A\>G | A3243G\-F304 | A3243G\-F304\-I2 | Uninf | M | N | Y | A | 33 | / | 4%; 6%; 5\.95%; 0\.7\-16\.1% | / | / | Mild exercise intolerance with abnormal in vivo mitochondrial ATP production despite normal muscle histochemistry and respiratory chain activities | Original label: Patient 2\. |

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