T3250C-F3

**Figure 1\. Pedigree diagram for family T3250C\-F3\.**

![](/media/202606/20260630205717505953.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3250 | m.3250T\>C | T3250C\-F3 | German | Chronic progressive external ophthalmoplegia | 1 | 3 | 1999 | Grünewald T, Porschke H, Goebel H, Reichmann H, Seibel P. Chronic progressive external ophthalmoplegia with a novel mitochondrial DNA deletion and a mutation in the tRNALEU (UUR) gene. Drug development research. 1999 Jan;46(1\):80\-5 |  |

The **m.3250T\>C** variant in MT\-TL1 was reported in family T3250C\-F3 from German with chronic progressive external ophthalmoplegia. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was chronic progressive external ophthalmoplegia.

# 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 | 3250 | m.3250T\>C | T3250C\-F3 | T3250C\-F3\-I2 | Uninf | F | N | Y | A | ND | / | 10% | / | / | Chronic progressive external ophthalmoplegia |  |
| 2 | 3250 | m.3250T\>C | T3250C\-F3 | T3250C\-F3\-II1 | Fam | F | Y | Y | D | 12 | / | 10% | / | / | Chronic progressive external ophthalmoplegia |  |
| 3 | 3250 | m.3250T\>C | T3250C\-F3 | T3250C\-F3\-II2 | Fam | F | N | Y | D | ND | / | 10% | / | / | Chronic progressive external ophthalmoplegia |  |
| 4 | 3250 | m.3250T\>C | T3250C\-F3 | T3250C\-F3\-II3 | Fam | F | N | Y | A | ND | / | 10% | / | / | Chronic progressive external ophthalmoplegia |  |
| 5 | 3250 | m.3250T\>C | T3250C\-F3 | T3250C\-F3\-II4 | Fam | M | N | N | A | ND | / | 10% | / | / | Healthy |  |

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