A12320G-F1

**Figure 1\. Pedigree diagram for family A12320G\-F1\.**

![](/media/202606/20260625141805773794.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 | 12320 | m.12320A\>G | A12320G\-F1 | UK | Isolated skeletal myopathy | 3 | 0 | 1997 | [9012410](https://pubmed.ncbi.nlm.nih.gov/9012410/) |  |

The **m.12320A\>G** variant in MT\-TL2 was reported in family A12320G\-F1 from UK with isolated skeletal myopathy. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was isolated skeletal myopathy.

# 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 | 12320 | m.12320A\>G | A12320G\-F1 | A12320G\-F1\-II2 | Uninf | F | Y | Y | A | 34 | 0% | 90% | / | 0% (F) | Isolated skeletal myopathy |  |
| 2 | 12320 | m.12320A\>G | A12320G\-F1 | A12320G\-F1\-III1 | Fam | F | N | N | A | 20 | / | / | / | / | Healthy |  |
| 3 | 12320 | m.12320A\>G | A12320G\-F1 | A12320G\-F1\-III2 | Fam | F | N | N | A | 22 | / | / | / | / | Healthy |  |
| 4 | 12320 | m.12320A\>G | A12320G\-F1 | A12320G\-F1\-III3 | Fam | F | N | N | A | 24 | / | / | / | / | Healthy |  |

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