G12316A-F1

**Figure 1\. Pedigree diagram for family G12316A\-F1\.**

![](/media/202606/20260625142136657164.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12316 | m.12316G\>A | G12316A\-F1 | Italy | Chronic progressive external ophthalmoplegia | ND | ND | 2008 | [18603265](https://pubmed.ncbi.nlm.nih.gov/18603265/) |  |

The **m.12316G\>A** variant in MT\-TL2 was reported in family G12316A\-F1 from Italy with chronic progressive external ophthalmoplegia. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was chronic progressive external ophthalmoplegia.

# 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 | 12316 | m.12316G\>A | G12316A\-F1 | G12316A\-F1\-II2 | Uninf | F | Y | Y | A | 50 | 3% | 40% | 10% | 0% (H), 0% (BM) | Chronic progressive external ophthalmoplegia |  |
| 2 | 12316 | m.12316G\>A | G12316A\-F1 | G12316A\-F1\-III1 | Fam | F | N | N | A | 25 | / | / | / | / | Healthy |  |
| 3 | 12316 | m.12316G\>A | G12316A\-F1 | G12316A\-F1\-III2 | Fam | F | N | N | A | 12 | / | / | / | / | Healthy |  |

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