G8363A-F2

**Figure 1\. Pedigree diagram for family G8363A\-F2\.**

![](/media/202607/G8363A-F2-pedigree_20260701024658336208.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\-F2 | Japanese | MERRF | 0 | 1 | 1997 | [9052804](https://pubmed.ncbi.nlm.nih.gov/9052804/) | Family B |

The **m.8363G\>A** variant in MT\-TK was reported in family G8363A\-F2 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 dysarthria beginning in her 40s, elevated lactate and pyruvate after aerobic exercise, merrf, myoclonus epilepsy, cerebellar ataxia since age 9, marked generalized muscle weakness and atrophy, moderate mental deterioration.

# 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\-F2 | G8363A\-F2\-II1 | Fam | F | N | Y | A | 52 | 60\.6% | 65\.2% | / | 88\.4\+/\-6\.6% (COX\-negative single fibers); 65\.1\+/\-8\.0% (COX\-positive single fibers) | Dysarthria beginning in her 40s; elevated lactate and pyruvate after aerobic exercise | Original label: Family B I\-2; Figure 1 blood 60\.6% (B), muscle 65\.2% (M). |
| 2 | 8363 | m.8363G\>A | G8363A\-F2 | G8363A\-F2\-II2 | Fam | F | Y | Y | A | 15 | / | / | / | / | MERRF; myoclonus epilepsy; cerebellar ataxia since age 9; marked generalized muscle weakness and atrophy; moderate mental deterioration | Original label: Family B II\-2; proband. |

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