T12313C-F1

**Figure 1\. Pedigree diagram for family T12313C\-F1\.**

![](/media/202606/20260625142407565242.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 | 12313 | m.12313T\>C | T12313C\-F1 | Italy | Chronic progressive weakness of facioscapulohumeral/peroneal muscles | ND | ND | 2008 | [18343111](https://pubmed.ncbi.nlm.nih.gov/18343111/) |  |

The **m.12313T\>C** variant in MT\-TL2 was reported in family T12313C\-F1 from Italy with chronic progressive weakness of facioscapulohumeral/peroneal muscles. The pedigree record reported ND unaffected and ND 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 chronic progressive weakness of facioscapulohumeral, peroneal muscles.

# 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 | 12313 | m.12313T\>C | T12313C\-F1 | T12313C\-F1\-II2 | Uninf | F | Y | Y | A | 45 | 0% | 72% | 0% | / | Chronic progressive weakness of facioscapulohumeral/peroneal muscles |  |
| 2 | 12313 | m.12313T\>C | T12313C\-F1 | T12313C\-F1\-III1 | Fam | F | N | N | A | 16 | 0% | / | 0% | / | Healthy |  |

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