G3249A-F1

**Figure 1\. Pedigree diagram for family G3249A\-F1\.**

![](/media/202606/20260630205447951391.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3249 | m.3249G\>A | G3249A\-F1 | Belgium | Progressive visual failure, neurosensorial hearing loss, exercise intolerance, muscle weakness, paresthesia in the lower limbs, difficulties swallowing | 1 | 0 | 2001 | [11448301](https://pubmed.ncbi.nlm.nih.gov/11448301/) |  |

The **m.3249G\>A** variant in MT\-TL1 was reported in family G3249A\-F1 from Belgium with progressive visual failure, neurosensorial hearing loss, exercise intolerance, muscle weakness, paresthesia in the lower limbs, difficulties swallowing. 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 progressive visual failure, neurosensorial hearing loss, exercise intolerance, muscle weakness, paresthesia in the lower limbs, difficulties swallowing.

# 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 | 3249 | m.3249G\>A | G3249A\-F1 | G3249A\-F1\-I2 | Uninf | F | N | N | A | ND | \<5% | / | / | / | Healthy |  |
| 2 | 3249 | m.3249G\>A | G3249A\-F1 | G3249A\-F1\-II1 | Fam | M | Y | Y | A | 22 | 45% | 85% | / | / | Progressive visual failure, neurosensorial hearing loss, exercise intolerance, muscle weakness, paresthesia in the lower limbs, difficulties swallowing |  |

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