G586A-F1

**Figure 1\. Pedigree diagram for family G586A\-F1\.**

![](/media/202607/G586A-F1-pedigree_20260701022940661418.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 586 | m.586G\>A | G586A\-F1 | UK | Progressive neurodegenerative disorder with psychiatric disturbance, dementia, and akinesia\-rigidity | 2 | 0 | 2010 | [21060018](https://pubmed.ncbi.nlm.nih.gov/21060018/) |  |

The **m.586G\>A** variant in MT\-TF was reported in family G586A\-F1 from UK with progressive neurodegenerative disorder with psychiatric disturbance, dementia, and akinesia\-rigidity. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was akinesia\-rigidity, abnormal movements, dementia, psychiatric disturbance, and profound sensorineural deafness.

# 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 | 586 | m.586G\>A | G586A\-F1 | G586A\-F1\-I2 | Uninf | F | N | N | D | 80 | / | / | / | 13% (Breast) | Healthy |  |
| 2 | 586 | m.586G\>A | G586A\-F1 | G586A\-F1\-II2 | Fam | F | Y | Y | A | 57 | 3% | 85% | 29% | / | Akinesia\-rigidity, abnormal movements, dementia, psychiatric disturbance, and profound sensorineural deafness |  |
| 3 | 586 | m.586G\>A | G586A\-F1 | G586A\-F1\-III1 | Fam | M | N | N | A | 20 | / | / | / | / | Healthy |  |

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