A3302G-F2

**Figure 1\. Pedigree diagram for family A3302G\-F2\.**

![](/media/202606/20260630203850007538.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3302 | m.3302A\>G | A3302G\-F2 | The Netherlands | Cardiorespiratory failure | 1 | 1 | 2004 | [15351426](https://pubmed.ncbi.nlm.nih.gov/15351426/) |  |

The **m.3302A\>G** variant in MT\-TL1 was reported in family A3302G\-F2 from The Netherlands with cardiorespiratory failure. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was slowly progressive myopathy, shoulder girdle weakness, facial diplegia, external ophthalmoplegia, intestinal motility disturbances, chronic respiratory insufficiency, sensorineural deafness, first grade av\-block.

# 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 | 3302 | m.3302A\>G | A3302G\-F2 | A3302G\-F2\-I2 | Uninf | F | Y | Y | A | 40 | 33% | 76% | / | 52% (F), 58% (H), 67% (Breast issue) | Slowly progressive myopathy, shoulder girdle weakness, facial diplegia, external ophthalmoplegia, intestinal motility disturbances, chronic respiratory insufficiency, sensorineural deafness, first grade AV\-block, atrial tachycardia. |  |
| 2 | 3302 | m.3302A\>G | A3302G\-F2 | A3302G\-F2\-II1 | Fam | M | N | Y | D | 15 | 62% | 96% | / | 60% (F), 80% (H) | Bilateral progressive ptosis, proximal muscle weakness, complete external ophthalmoplegia, moderate facial diplegia, limb girdle\-type weakness, respiratory failure, severe lactic acidosis, ventricular fibrillation, asystole, anoxic brain injury, severe permanent brain damage. |  |
| 3 | 3302 | m.3302A\>G | A3302G\-F2 | A3302G\-F2\-II2 | Fam | F | N | N | A | ND | 26% | / | / | 23% (H) | Healthy |  |

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