T3290C-F1

**Figure 1\. Pedigree diagram for family T3290C\-F1\.**

![](/media/202606/20260630210640364268.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3290 | m.3290T\>C | T3290C\-F1 | UK | Skeletal myopathy | 3 | 3 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Carrying A3243G |

The **m.3290T\>C** variant in MT\-TL1 was reported in family T3290C\-F1 from UK with skeletal myopathy. The pedigree record reported 3 unaffected and 3 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 4/7 listed carriers; 4/7 carriers were affected, and the main clinical manifestation among affected carriers was limb weakness.

# 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 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-I1 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy | Carrying A3243G |
| 2 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-II1 | Fam | F | N | Y | D | ND | / | / | / | / | Skeletal myopathy | Carrying A3243G |
| 3 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-II2 | Fam | M | N | Y | A | 50 | Homo | / | / | / | Skeletal myopathy | Carrying A3243G |
| 4 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-II3 | Fam | F | Y | Y | A | 8 | Homo | / | / | / | Limb weakness | Carrying A3243G |
| 5 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-II4 | Fam | M | N | Y | D | ND | / | / | / | / | Limb weakness | Carrying A3243G |
| 6 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-III1 | Fam | F | N | N | A | 34 | Homo | / | / | / | Healthy | Carrying A3243G |
| 7 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-III2 | Fam | F | N | N | A | 32 | Homo | / | / | / | Healthy | Carrying A3243G |

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