A14693G-F1

**Figure 1\. Pedigree diagram for family A14693G\-F1\.**

![](/media/202606/20260626170242551030.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14693 | m.14693A\>G | A14693G\-F1 | China | Foot twitches, limb weakness, drowsiness, hemihypoesthesia, headache, confusion, disorientation, reading impairment, cognitive decline, sensory deficits, hemianopsia, unsteady gait, apraxia, finger agnosia | 2 | 1 | 2003 | [14571459](https://pubmed.ncbi.nlm.nih.gov/14571459/) | Carrying A3243G |

The **m.14693A\>G** variant in MT\-TE was reported in family A14693G\-F1 from China with foot twitches, limb weakness, drowsiness, hemihypoesthesia, headache, confusion, disorientation, reading impairment, cognitive decline, sensory deficits, hemianopsia, unsteady gait, apraxia, finger agnosia. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was foot twitches, limb weakness, drowsiness, hemihypoesthesia, headache, confusion, disorientation, reading impairment.

# 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 | 14693 | m.14693A\>G | A14693G\-F1 | A14693G\-F1\-II1 | Fam | M | Y | Y | A | 32 | / | Homo | / | / | Foot twitches, limb weakness, drowsiness, hemihypoesthesia, headache, confusion, disorientation, reading impairment, cognitive decline, sensory deficits, hemianopsia, unsteady gait, apraxia, finger agnosia | Carrying A3243G |
| 2 | 14693 | m.14693A\>G | A14693G\-F1 | A14693G\-F1\-I2 | Uninf | F | N | Y | A | 58 | 10% | / | / | / | Diabetes mellitus, bilateral ptosis | Without A3243G |

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