A8344G-F134

**Figure 1\. Pedigree diagram for family A8344G\-F134\.**

![](/media/202607/A8344G-F134-pedigree_20260701023906854406.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\-F134 | German | MERRF\-like/Leigh\-like syndrome with Klinefelter syndrome | 2 | 0 | 2018 | [29650490](https://pubmed.ncbi.nlm.nih.gov/29650490/) | No muscle load is reported; multi\-tissue loads are shown for blood, saliva, buccal cells, skin, urine and fibroblast culture. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F134 from German with merrf\-like/leigh\-like syndrome with klinefelter syndrome. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was klinefelter syndrome, gait impairment, dysphagia, ataxia, myoclonus, spasticity, intention tremor, optic atrophy.

# 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\-F134 | A8344G\-F134\-II1 | Fam | M | Y | Y | A | 32 | 93% | / | 99% | 95%(Saliva); 92%(BM); 91%(F); 84%(F) | Klinefelter syndrome, gait impairment, dysphagia, ataxia, myoclonus, spasticity, intention tremor, optic atrophy/visual impairment, hypogonadism, hearing loss, tonic\-clonic seizure, aspiration pneumonia, brainstem/basal ganglia lesions | Original label L\-10878; high mutant load across tissues; symptoms improved after genotype\-driven treatment.; Evidence: Pages 3, 5\-6\. |
| 2 | 8344 | m.8344A\>G | A8344G\-F134 | A8344G\-F134\-I2 | Uninf | F | N | N | A | ND | 65% | / | 82% | 76%(Saliva); 73%(BM); 71%(F); 37%(F) | Healthy | Original label L\-10879; age not reported; asymptomatic by semi\-structured interview/medical history.; Evidence: Pages 3 and 6\. |
| 3 | 8344 | m.8344A\>G | A8344G\-F134 | A8344G\-F134\-II2 | Fam | M | N | N | A | ND | 66% | / | 84% | 67%(Saliva); 77%(BM); 61%(F); 26%(F) | Healthy | Original label L\-10881; age not reported; asymptomatic by semi\-structured interview/medical history.; Evidence: Pages 3 and 6\. |

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