A8344G-F96

**Figure 1\. Pedigree diagram for family A8344G\-F96\.**

![](/media/202607/A8344G-F96-pedigree_20260701024520737640.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\-F96 | Italian | MERRF syndrome without ragged\-red fibers | 1 | 0 | 2007 | [17275787](https://pubmed.ncbi.nlm.nih.gov/17275787/) | No pedigree figure; mother was molecularly positive in blood. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F96 from Italian with merrf syndrome without ragged\-red fibers. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was progressive limb myoclonus, generalized seizures, sensorineural hearing loss, short stature, bilateral hearing loss, mild hyperlactatemia, mild respiratory\-chain deficiency, no ragged\-red fibers.

# 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\-F96 | A8344G\-F96\-II1 | Fam | M | Y | Y | A | 22 | 33% | 35% | 39% | 35%(BM) | Progressive limb myoclonus, generalized seizures, sensorineural hearing loss, short stature, bilateral hearing loss, mild hyperlactatemia, mild respiratory\-chain deficiency, no ragged\-red fibers | Molecular diagnosis despite normal histochemistry; levetiracetam improved myoclonus.; Evidence: Pages 1\-2 case report and molecular analysis. |
| 2 | 8344 | m.8344A\>G | A8344G\-F96 | A8344G\-F96\-I1 | Uninf | F | N | N | A | ND | 25% | / | / | / | Healthy | Only blood testing was reported.; Evidence: Page 2: asymptomatic mother's blood positive at 25%. |

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