G12300A-F1

**Figure 1\. Pedigree diagram for family G12300A\-F1\.**

![](/media/202606/20260625142041736141.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 | 12300 | m.12300G\>A | G12300A\-F1 | Spain | MERRF–NARP syndrome | 2 | 0 | 2012 | [22094595](https://pubmed.ncbi.nlm.nih.gov/22094595/) |  |

The **m.12300G\>A** variant in MT\-TL2 was reported in family G12300A\-F1 from Spain with merrf–narp syndrome. The pedigree record reported 2 unaffected and 0 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 merrf–narp syndrome.

# 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 | 12300 | m.12300G\>A | G12300A\-F1 | G12300A\-F1\-I2 | Uninf | F | N | N | A | ND | 15% | / | / | / | Partial sensorineural hearing loss |  |
| 2 | 12300 | m.12300G\>A | G12300A\-F1 | G12300A\-F1\-II1 | Fam | F | Y | Y | A | 4 | / | 84% | / | 89% (F) | MERRF–NARP syndrome |  |
| 3 | 12300 | m.12300G\>A | G12300A\-F1 | G12300A\-F1\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |

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