A5816G-F2

**Figure 1\. Pedigree diagram for family A5816G\-F2\.**

![](/media/202606/20260621220149209937.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5816 | m.5816A\>G | A5816G\-F2 | China | Mitochondrial dystonia | 1 | 3 | 2023 | [37771542](https://pubmed.ncbi.nlm.nih.gov/37771542/) |  |

The **m.5816A\>G** variant in MT\-TC was reported in family A5816G\-F2 from China with mitochondrial dystonia. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was hand tremors, double eyelid blinking, epilepsy, vomiting, decreased consciousness, mouth twitching, limb shaking, salivation.

# 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 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-II2 | fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 2 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-II3 | fam | M | N | Y | A | ND | / | / | / | / | ND |  |
| 3 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-II4 | fam | F | N | Y | A | ND | \+ | / | \+ | / | Hand tremors |  |
| 4 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-III2 | fam | F | N | Y | A | ND | \+ | / | \+ | / | Double eyelid blinking, epilepsy |  |
| 5 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-IV1 | fam | F | Y | Y | D | 3 | \+ | / | \+ | / | Vomiting, decreased consciousness, mouth twitching, limb shaking, salivation, speechlessness, fatigue, social withdrawal, slurred speech, choking, poor sleep, night crying, unsteady walking, easy falling, delirium, poor mental responsiveness, limited eye abduction, irritability, agitation, hand tremors, seizures, gaze deviation, cyanosis |  |

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