A8344G-F49

**Figure 1\. Pedigree diagram for family A8344G\-F49\.**

![](/media/202607/A8344G-F49-pedigree_20260701024248104525.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\-F49 | German | MERRF / maternally inherited myoclonus epilepsy | 2 | 2 | 1993 | [8454287](https://pubmed.ncbi.nlm.nih.gov/8454287/) | Earlier affected relatives without molecular mapping are not entered. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F49 from German with merrf / maternally inherited myoclonus epilepsy. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was merrf syndrome, axonal polyneuropathy, epilepsy, merrf, axonal neuropathy affecting cns and pns, epileptic seizures, myoclonic seizures, ataxia.

# 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\-F49 | A8344G\-F49\-V1 | Fam | F | N | N | A | ND | 20% | / | / | / | Healthy | Blood load from Fig. 1; no symptoms reported.; Evidence: Fig. 1 and text map V\-1 to A8344G\-positive blood. |
| 2 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-VI2 | Fam | M | ND | Y | A | 31 | 70% | / | / | 40%(F) | MERRF syndrome; axonal polyneuropathy; epilepsy | Age 31 reflects later clinical description; muscle biopsy at 26 showed ragged\-red fibers and abnormal mitochondrial ultrastructure. Evidence: Fig. 1 reports VI\-2 blood 70% and fibroblasts 40%; clinical text describes MERRF, epilepsy, and axonal polyneuropathy. |
| 3 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-VI3 | Fam | F | N | N | A | ND | 50% | / | / | / | Healthy | Unaffected mutation carrier.; Evidence: Fig. 1 maps VI\-3 to A8344G\-positive blood with 50% mutant mtDNA. |
| 4 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-VI4 | Fam | M | N | Y | D | 31 | / | 80% | / | 2%(F) | MERRF; axonal neuropathy affecting CNS and PNS | Died at age 31; muscle histochemistry/electron microscopy showed mitochondriopathy with ragged\-red fibers. Evidence: Fig. 1 reports VI\-4 muscle 80% and fibroblasts 2%; text describes affected disease course and axonal neuropathy. |
| 5 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-VI5 | Fam | M | N | Y | A | 24 | 70% | / | / | 40%(F) | Epileptic seizures; myoclonic seizures; ataxia; proximal muscle weakness; muscular atrophy; reduced visus | First seizure at age 19; muscle biopsy at age 24 showed ragged\-red fibers. Evidence: Fig. 1 reports VI\-5 blood 70% and fibroblasts 40%; clinical text describes affected features. |

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