T3250C-F1

**Figure 1\. Pedigree diagram for family T3250C\-F1\.**

![](/media/202606/20260630205616489754.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\-F1 | Japan | Easy fatigability, respiratory difficulty, cyanosis, disturbed consciousness, muscle weakness, respiratory distress, Gowers' maneuver | 7 | 6 | 1992 | [1514779](https://pubmed.ncbi.nlm.nih.gov/1514779/) |  |

The **m.3250T\>C** variant in MT\-TL1 was reported in family T3250C\-F1 from Japan with easy fatigability, respiratory difficulty, cyanosis, disturbed consciousness, muscle weakness, respiratory distress, gowers' maneuver. The pedigree record reported 7 unaffected and 6 affected maternal relatives, and the carrier table includes 14 listed carriers. Homoplasmy was reported in 0/14 listed carriers; 7/14 carriers were affected, and the main clinical manifestation among affected carriers was easy fatigability, muscle weakness, respiratory distres.

# 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\-F1 | T3250C\-F1\-II3 | Uninf | F | N | N | D | 45 | / | / | / | / | Healthy |  |
| 2 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-III5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 5 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-III6 | Fam | F | N | Y | A | 43 | / | / | / | / | Easy fatigability, respiratory difficulty, cyanosis, disturbed consciousness, muscle weakness, respiratory distress, Gowers' maneuver |  |
| 6 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-III7 | Fam | F | N | Y | A | 40 | / | / | / | / | Easy fatigability, respiratory difficulty, cyanosis, disturbed consciousness, muscle weakness, respiratory distress, Gowers' maneuver |  |
| 7 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-III8 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 8 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-III9 | Fam | F | N | Y | A | 36 | / | / | / | / | Easy fatigability |  |
| 9 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-IV1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 10 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-IV2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 11 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-IV7 | Fam | M | N | Y | A | 15 | / | / | / | / | Easy fatigability |  |
| 12 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-IV8 | Fam | F | Y | Y | A | 8 | / | / | / | / | Easy fatigability, muscle weakness, respiratory distres |  |
| 13 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-IV9 | Fam | F | N | Y | A | 8 | / | / | / | / | Easy fatigability |  |
| 14 | 3250 | m.3250T\>C | T3250C\-F1 | T3250C\-F1\-IV10 | Fam | M | N | Y | A | 5 | / | / | / | / | Easy fatigability, muscle weakness |  |

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