A3252G-F2

**Figure 1\. Pedigree diagram for family A3252G\-F2\.**

![](/media/202606/20260630203301651087.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3252 | m.3252A\>G | A3252G\-F2 | UK | Encephalomyopathy | 2 | 2 | 1993 | [8111377](https://pubmed.ncbi.nlm.nih.gov/8111377/) |  |

The **m.3252A\>G** variant in MT\-TL1 was reported in family A3252G\-F2 from UK with encephalomyopathy. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was progressive generalised weakness, spastic paraparesis, dysarthria, stroke\-like episode, encephalomyopathy, pigmentary retinopathy, dementia, hypoparathyroidism.

# 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 | 3252 | m.3252A\>G | A3252G\-F2 | A3252G\-F2\-I2 | Uninf | F | N | ND | A | 60 | / | / | / | / | Difficulty walking, frequent falls, cerebellar degeneration |  |
| 2 | 3252 | m.3252A\>G | A3252G\-F2 | A3252G\-F2\-II1 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 3252 | m.3252A\>G | A3252G\-F2 | A3252G\-F2\-II2 | Fam | F | N | Y | D | 44 | / | 50% | / | / | Progressive generalised weakness, spastic paraparesis, dysarthria, stroke\-like episode |  |
| 4 | 3252 | m.3252A\>G | A3252G\-F2 | A3252G\-F2\-III2 | Fam | F | N | N | A | ND | \<3% | 7% | / | 6% (F) | Healthy |  |
| 5 | 3252 | m.3252A\>G | A3252G\-F2 | A3252G\-F2\-III3 | Fam | F | Y | Y | D | 4 | 30% | 76% | / | 76% (Lymphoblast) | Encephalomyopathy, pigmentary retinopathy, dementia, hypoparathyroidism, diabetes mellitus |  |

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