A8344G-F99

**Figure 1\. Pedigree diagram for family A8344G\-F99\.**

![](/media/202607/A8344G-F99-pedigree_20260701024529485849.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\-F99 | Japanese | MERRF with brain\-stem and cerebellar involvement | 0 | 1 | 2008 | [17989367](https://pubmed.ncbi.nlm.nih.gov/17989367/) | Older sister had MERRF with mitochondrial A8344G; age and mutation load not reported. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F99 from Japanese with merrf with brain\-stem and cerebellar involvement. 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 merrf, cerebellar ataxia, mental deterioration, recurrent seizures, myoclonus, recurrent loss of consciousness, stroke\-like episode with right hemianopia and aphasia, cerebellar 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\-F99 | A8344G\-F99\-II2 | Fam | M | Y | Y | A | 53 | / | / | / | / | MERRF, cerebellar ataxia, mental deterioration, recurrent seizures, myoclonus, recurrent loss of consciousness, stroke\-like episode with right hemianopia and aphasia, cerebellar atrophy | Older sister with A8344G\-MERRF supports familial status; no mutation load reported.; Evidence: Pages 3\-4 Patient 3 case report. |
| 2 | 8344 | m.8344A\>G | A8344G\-F99 | A8344G\-F99\-II1 | Fam | F | N | Y | ND | ND | / | / | / | / | MERRF | Older sister of Patient 3; previously diagnosed with MERRF with mitochondrial A8344G. Age and mutation load not reported. |

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