T3250C-F2

**Figure 1\. Pedigree diagram for family T3250C\-F2\.**

![](/media/202606/20260630205636646790.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\-F2 | Australia | Head flexed when walking, tiredness, stumbling, severe neck extensor weakness, marked lumbar lordosis, mild proximal weakness, peripheral hypotonia, modified Gower sign, reluctance to walk, frequent falls, inability to climb stairs, delayed myelination, decreased exercise tolerance | 3 | 2 | 1997 | [9003864](https://pubmed.ncbi.nlm.nih.gov/9003864/) |  |

The **m.3250T\>C** variant in MT\-TL1 was reported in family T3250C\-F2 from Australia with head flexed when walking, tiredness, stumbling, severe neck extensor weakness, marked lumbar lordosis, mild proximal weakness, peripheral hypotonia, modified gower sign, reluctance to walk, frequent falls, inability to climb stairs, delayed myelination, decreased exercise tolerance. The pedigree record reported 3 unaffected and 2 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 0/6 listed carriers; 3/6 carriers were affected, and the main clinical manifestation among affected carriers was sensorineural deafness, skeletal myopathy, suddeninfant death syndrome.

# 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\-F2 | T3250C\-F2\-I1 | Uninf | F | N | N | A | ND | 5% | / | / | / | Healthy |  |
| 2 | 3250 | m.3250T\>C | T3250C\-F2 | T3250C\-F2\-II2 | Fam | M | N | Y | A | ND | 2% | / | / | / | Sensorineural deafness |  |
| 3 | 3250 | m.3250T\>C | T3250C\-F2 | T3250C\-F2\-II3 | Fam | F | N | N | A | ND | 43% | / | / | / | Healthy |  |
| 4 | 3250 | m.3250T\>C | T3250C\-F2 | T3250C\-F2\-III1 | Fam | F | N | N | A | ND | 25% | / | / | / | Healthy |  |
| 5 | 3250 | m.3250T\>C | T3250C\-F2 | T3250C\-F2\-III2 | Fam | F | Y | Y | A | 13 months | / | 81% | / | 96% (F) | Skeletal Myopathy |  |
| 6 | 3250 | m.3250T\>C | T3250C\-F2 | T3250C\-F2\-III3 | Fam | F | N | Y | D | 4 months | / | 34% | / | 54% (Liver), 43% (Heart muscle), 58% (Brain) | SuddenInfant Death Syndrome |  |

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