A8344G-F4

**Figure 1\. Pedigree diagram for family A8344G\-F4\.**

![](/media/202607/A8344G-F4-pedigree_20260701024116798182.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\-F4 | French | MERRF/cardiomyopathy/myopathy | 5 | 2 | 1991 | [1661776](https://pubmed.ncbi.nlm.nih.gov/1661776/) | Fig.4 values read from rendered page image; approximate printed labels. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F4 from French with merrf/cardiomyopathy/myopathy. The pedigree record reported 5 unaffected and 2 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 3/8 carriers were affected, and the main clinical manifestation among affected carriers was fatigability, myoclonic epilepsy, proximal weakness, mild cerebellar dysfunction, dilated cardiomyopathy, muscle weakness, intentional tremor, abnormal eeg.

# 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\-F4 | A8344G\-F4\-III4 | Fam | F | ND | Y | ND | 24 onset | 77% | 83% | / | 87%(H); 48%(F) | Fatigability, myoclonic epilepsy, proximal weakness, mild cerebellar dysfunction, dilated cardiomyopathy | III\-4 |
| 2 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV1 | Fam | M | ND | N | ND | 17 | 63% | / | / | 63%(H) | Asymptomatic; defective heart valve | IV\-1 |
| 3 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV2 | Fam | M | ND | Y | ND | 15 | 82% | 84% | / | 72%(H); 31%(F) | Muscle weakness, intentional tremor, abnormal EEG | IV\-2; ragged\-red fibers on muscle biopsy |
| 4 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV3 | Fam | F | ND | Y | ND | 10 | 67% | 84% | / | 85%(H) | Severe cerebellar ataxia and myoclonic epilepsy from age 8 | IV\-3 |
| 5 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-III6 | Fam | F | ND | N | ND | ND | 76% | / | / | / | Healthy | III\-6; appeared normal but not clinically examined |
| 6 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV5 | Fam | F | ND | N | ND | ND | 29% | / | / | / | Healthy | IV\-5; appeared normal but not clinically examined |
| 7 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV6 | Fam | M | ND | N | ND | ND | 74% | / | / | / | Healthy | IV\-6; appeared normal but not clinically examined |
| 8 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV8 | Fam | M | ND | N | ND | ND | 66% | / | / | / | Healthy | IV\-8; appeared normal but not clinically examined |

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