A8344G-F43

**Figure 1\. Pedigree diagram for family A8344G\-F43\.**

![](/media/202607/A8344G-F43-pedigree_20260701024143508883.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\-F43 | Japanese | MERRF | 0 | 1 | 1993 | [8228033](https://pubmed.ncbi.nlm.nih.gov/8228033/) | No heteroplasmy percentage. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F43 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 myoclonus, intention tremor, slight weakness, mental disturbance, hearing impairment, optic atrophy, no epileptic attacks or gait ataxia, myoclonus of hands.

# 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\-F43 | A8344G\-F43\-II1 | Uninf | F | Y | Y | ND | 19 years 7 months last seen | / | positive | / | / | Myoclonus, intention tremor, slight weakness, mental disturbance, hearing impairment, optic atrophy; no epileptic attacks or gait ataxia | case 1 older sister |
| 2 | 8344 | m.8344A\>G | A8344G\-F43 | A8344G\-F43\-II2 | Uninf | F | ND | Y | ND | 18 years 5 months follow\-up | / | positive | / | / | Myoclonus of hands/arms/trunk, intention tremor, fatigue, slight optic atrophy and slight sensorineural hearing loss | case 2 younger sister; muscle biopsy showed about 10% ragged\-red fibers; same tRNALys mutation detected. |

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