A8344G-F27

**Figure 1\. Pedigree diagram for family A8344G\-F27\.**

![](/media/202607/A8344G-F27-pedigree_20260701023949836626.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 | 8344 | m.8344A\>G | A8344G\-F27 | Finland | MERRF spectrum | 0 | 2 | 1992 | [1431990](https://pubmed.ncbi.nlm.nih.gov/1431990/) | Patient 6 and her daughter patient 7 and son patient 8 are all mutation\-positive; no exact heteroplasmy load is reported. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F27 from Finland with merrf spectrum. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was generalized myoclonus, progressive weakness, cerebellar tremor and ataxia, burning pain in soles, scattered rrf, no seizures or dementia, seizures since age 20, mild generalized myoclonus and weakness.

# 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 | 8344 | m.8344A\>G | A8344G\-F27 | A8344G\-F27\-I1 | Uninf | F | ND | Y | A | 65 | / | / | / | / | Generalized myoclonus; progressive weakness; cerebellar tremor and ataxia; burning pain in soles; scattered RRF; no seizures or dementia | Mother of patients 7 and 8; A8344G detected, but exact heteroplasmy load not reported. |
| 2 | 8344 | m.8344A\>G | A8344G\-F27 | A8344G\-F27\-II1 | Fam | F | ND | Y | A | ND | / | / | / | / | Seizures since age 20; mild generalized myoclonus and weakness; mild hearing loss; abnormal EEG; muscle biopsy normal | Daughter of patient 6\. A8344G detected; exact heteroplasmy load not reported. Age at evaluation not reported, so onset age remains in Clinical Features only. |
| 3 | 8344 | m.8344A\>G | A8344G\-F27 | A8344G\-F27\-II2 | Fam | M | ND | Y | A | ND | / | / | / | / | Generalized seizures since age 27; generalized myoclonus; cerebellar ataxia; wheelchair by age 35; bilateral hearing loss; dysarthria; abnormal EEG | Son of patient 6\. A8344G detected; exact heteroplasmy load not reported. Age at evaluation not reported. |

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