A8344G-F60

**Figure 1\. Pedigree diagram for family A8344G\-F60\.**

![](/media/202607/A8344G-F60-pedigree_20260701024357079517.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\-F60 | Japanese | MERRF | 2 | 2 | 1993 | [7603535](https://pubmed.ncbi.nlm.nih.gov/7603535/) | Third family in Fig. 1; G/H from target\-positive maternal\-line pedigree review. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F60 from Japanese with merrf. 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, myoclonus epilepsy, slight dementia, no muscular wasting, myoclonic jerks, mental retardation.

# 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\-F60 | A8344G\-F60\-II2 | Fam | M | Y | Y | D | 60 | positive; load not reported | / | / | / | MERRF | II\-2 proband |
| 2 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-II5 | Fam | F | N | N | A | 65 | positive; load not reported | / | / | / | Healthy | II\-5; mutation\-positive; mother of III\-5 |
| 3 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-III3 | Fam | F | N | N | A | 27 | positive; load not reported | / | / | / | Healthy | III\-3; mutation\-positive; daughter of II\-5 |
| 4 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-III5 | Fam | F | N | Y | A | 40 | positive; load not reported | / | / | / | myoclonus epilepsy; slight dementia; no muscular wasting | III\-5; mutation\-positive; niece of proband; daughter of II\-5; muscle biopsy showed ragged\-red fibers |
| 5 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-IV7 | Fam | M | N | Y | A | 17 | positive; load not reported | / | / | / | myoclonic jerks; mental retardation | IV\-7; mutation\-positive; son of III\-5 |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).