A7222G-F1

**Figure 1\. Pedigree diagram for family A7222G\-F1\.**

![](/media/202606/20260626162229570818.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7222 | m.7222A\>G | A7222G\-F1 | USA | Mitochondrial myopathy | 1 | 0 | 2012 | [22632780](https://pubmed.ncbi.nlm.nih.gov/22632780/) |  |

The **m.7222A\>G** variant in MT\-CO1 was reported in family A7222G\-F1 from USA with mitochondrial myopathy. 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 mitochondrial myopathy, progressive limb weakness, recurrent falls, ptosis, facial and proximal weakness.

# 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 | 7222 | m.7222A\>G | A7222G\-F1 | A7222G\-F1\-I1 | Uninf | F | Y | Y | A | 64 | 0% | 37% | 5\.3% | 0%(BM); 0%(H) | Mitochondrial myopathy; progressive limb weakness; recurrent falls; ptosis; facial and proximal weakness |  |
| 2 | 7222 | m.7222A\>G | A7222G\-F1 | A7222G\-F1\-II1 | Fam | F | N | N | A | ND | 0% | / | / | / | Healthy |  |

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