A3288G-F1

**Figure 1\. Pedigree diagram for family A3288G\-F1\.**

![](/media/202606/20260630203802238821.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3288 | m.3288A\>G | A3288G\-F1 | USA | Myopathy | 9 | 1 | 1999 | [10402027](https://pubmed.ncbi.nlm.nih.gov/10402027/) |  |

The **m.3288A\>G** variant in MT\-TL1 was reported in family A3288G\-F1 from USA with myopathy. The pedigree record reported 9 unaffected and 1 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 2/11 carriers were affected, and the main clinical manifestation among affected carriers was slowly progressive proximal weakness, sharp leg pains, poor weight gain, morning vomiting, strabismus, severe scoliosis, respiratory muscle weakness, respiratory arrests.

# 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 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-I2 | Uninf | F | N | N | A | ND | \+ | / | / | / | Healthy |  |
| 2 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-II1 | Fam | F | N | N | A | ND | \+ | / | / | / | Healthy |  |
| 3 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-II2 | Fam | F | N | N | A | ND | \+ | / | / | / | Healthy |  |
| 4 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-II3 | Fam | F | N | N | A | ND | \+ | / | / | / | Healthy |  |
| 5 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-II4 | Fam | F | N | N | A | ND | \+ | / | / | / | Healthy |  |
| 6 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-II5 | Fam | F | N | N | A | ND | \+ | / | / | / | Healthy |  |
| 7 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-III1 | Fam | M | N | Y | A | 5 | \+ | / | / | / | Slowly progressive proximal weakness, sharp leg pains, poor weight gain, morning vomiting, strabismus, severe scoliosis, respiratory muscle weakness, respiratory arrests, progressive bilateral ptosis, symmetric neck muscle weakness, mild shoulder and pelvic girdle weakness, absent arm deep tendon reflexes, reduced forced vital capacity |  |
| 8 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 9 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 10 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-III4 | Fam | F | Y | Y | A | 10 | \+ | \>97% | / | / | Exercise intolerance, leg aching pains, arm weakness |  |
| 11 | 3288 | m.3288A\>G | A3288G\-F1 | A3288G\-F1\-IV1 | Fam | F | N | N | A | 3 | / | / | / | / | Healthy |  |

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