G8363A-F1

**Figure 1\. Pedigree diagram for family G8363A\-F1\.**

![](/media/202607/G8363A-F1-pedigree_20260701024641014059.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 | 8363 | m.8363G\>A | G8363A\-F1 | Japanese | MERRF | 0 | 1 | 1997 | [9052804](https://pubmed.ncbi.nlm.nih.gov/9052804/) | Family A |

The **m.8363G\>A** variant in MT\-TK was reported in family G8363A\-F1 from Japanese with merrf. 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 convulsions at age 33 years, merrf, myoclonus epilepsy, generalized seizures, cerebellar ataxia at age 7, mild muscle weakness with hypotonia, elevated lactate and pyruvate, cardiac insufficiency.

# 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 | 8363 | m.8363G\>A | G8363A\-F1 | G8363A\-F1\-II1 | Fam | F | N | Y | A | ND | 50\.0% | / | / | / | Convulsions at age 33 years | Original label: Family A I\-2; Figure 1 blood 50\.0% (B). |
| 2 | 8363 | m.8363G\>A | G8363A\-F1 | G8363A\-F1\-II2 | Fam | M | Y | Y | A | 8 | / | / | / | / | MERRF; myoclonus epilepsy; generalized seizures; cerebellar ataxia at age 7; mild muscle weakness with hypotonia; elevated lactate and pyruvate; cardiac insufficiency | Original label: Family A II\-1; proband. |

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