G8363A-F10

**Figure 1\. Pedigree diagram for family G8363A\-F10\.**

![](/media/202607/G8363A-F10-pedigree_20260701024649670995.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\-F10 | China | Fluctuating ataxia / mitochondrial disease | 1 | 0 | 2022 | [35821181](https://pubmed.ncbi.nlm.nih.gov/35821181/) | / |

The **m.8363G\>A** variant in MT\-TK was reported in family G8363A\-F10 from China with fluctuating ataxia / mitochondrial disease. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was fluctuating ataxia, dysarthria, mild muscle weakness, exercise intolerance, sensory axonal peripheral neuropathy, rrf, rbf, cox\-deficient 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 | 8363 | m.8363G\>A | G8363A\-F10 | G8363A\-F10\-II1 | Fam | M | Y | Y | A | 20 | 39% | 96% | 67% | 78% (BM) | Fluctuating ataxia; dysarthria; mild muscle weakness; exercise intolerance; sensory axonal peripheral neuropathy; RRF/RBF/COX\-deficient fibers; elevated lactate | Oral mucosa 78% recorded in Other Mutant level as BM. |
| 2 | 8363 | m.8363G\>A | G8363A\-F10 | G8363A\-F10\-I1 | uninf | F | N | N | A | ND | 20% | / | / | / | Healthy | Asymptomatic mother had 20% heteroplasmy in blood cells. |

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