A3251G-F1

**Figure 1\. Pedigree diagram for family A3251G\-F1\.**

![](/media/202606/20260630203206763065.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3251 | m.3251A\>G | A3251G\-F1 | UK | Ocular, neck and proximal upper limb weakness, psychiatric features, sudden death | 0 | 14 | 1993 | [8265770](https://pubmed.ncbi.nlm.nih.gov/8265770/) |  |

The **m.3251A\>G** variant in MT\-TL1 was reported in family A3251G\-F1 from UK with ocular, neck and proximal upper limb weakness, psychiatric features, sudden death. The pedigree record reported 0 unaffected and 14 affected maternal relatives, and the carrier table includes 15 listed carriers. Homoplasmy was reported in 0/15 listed carriers; 15/15 carriers were affected, and the main clinical manifestation among affected carriers was early death, myopathy.

# 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 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-I1 | Uninf | F | N | Y | D | 50 | / | / | / | / | Early death |  |
| 2 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-I2 | Uninf | F | N | Y | D | 50 | / | / | / | / | Early death |  |
| 3 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-I3 | Uninf | F | N | Y | D | 50 | / | / | / | / | Myopathy, early death |  |
| 4 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-I4 | Uninf | F | N | Y | D | 4\~15 | / | / | / | / | Early death |  |
| 5 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-I5 | Uninf | M | N | Y | D | 20 | / | / | / | / | Myopathy, early death |  |
| 6 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-I6 | Uninf | M | N | Y | D | 20 | / | / | / | / | Early death |  |
| 7 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-II1 | Fam | M | N | Y | A | 20 | 21% | / | / | / | Myopathy |  |
| 8 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-II2 | Fam | F | N | Y | D | 36 | / | / | / | / | Myopathy, early death |  |
| 9 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-II3 | Fam | F | Y | Y | A | 20 | 13% | 81% | / | / | Myopathy |  |
| 10 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-II4 | Fam | F | N | Y | D | 30 | / | / | / | / | Early death |  |
| 11 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-II5 | Fam | M | N | Y | D | 16 | / | / | / | / | Myopathy, early death |  |
| 12 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-II6 | Fam | M | N | Y | D | 25 | / | / | / | / | Myopathy, early death |  |
| 13 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-II7 | Fam | F | N | Y | A | ND | 16% | / | / | / | Myopathy |  |
| 14 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-II8 | Fam | M | N | Y | D | 21 | / | / | / | / | Myopathy, early death |  |
| 15 | 3251 | m.3251A\>G | A3251G\-F1 | A3251G\-F1\-III3 | Fam | M | N | Y | A | 4 | 25% | / | / | / | Myopathy |  |

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