A5816G-F1

**Figure 1\. Pedigree diagram for family A5816G\-F1\.**

![](/media/202606/20260621220022402956.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\-F1 | UK | Mitochondrial dystonia | 10 | 3 | 2007 | [17724295](https://pubmed.ncbi.nlm.nih.gov/17724295/) |  |

The **m.5816A\>G** variant in MT\-TC was reported in family A5816G\-F1 from UK with mitochondrial dystonia. The pedigree record reported 10 unaffected and 3 affected maternal relatives, and the carrier table includes 14 listed carriers. Homoplasmy was reported in 4/14 listed carriers; 4/14 carriers were affected, and the main clinical manifestation among affected carriers was epilepsy, jerky dystonic movements, clawed hands, limited movement, pigmentary retinopathy, progressive dystonia, hemifacial spasm, bulbar dysfunction.

# 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\-F1 | A5816G\-F1\-I2 | uninf | F | N | N | D | 78 | / | / | / | / | Healthy |  |
| 2 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II1 | fam | M | N | Y | A | ND | / | Homo | / | / | Epilepsy, jerky dystonic movements, clawed hands, limited movement, pigmentary retinopathy |  |
| 3 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II2 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 4 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II3 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 5 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II4 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 6 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II5 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 7 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II6 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 8 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II7 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 9 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II8 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 10 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II9 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 11 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II10 | fam | F | N | Y | D | 50 | / | Homo | / | / | Progressive dystonia, hemifacial spasm, bulbar dysfunction, bilateral ptosis |  |
| 12 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II11 | fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 13 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-III1 | fam | M | Y | Y | A | ND | / | Homo | / | / | Nocturnal seizures, tremor, weakness, jerky dystonia |  |
| 14 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-III2 | fam | M | N | Y | A | ND | Homo | / | / | / | Generalized tonic\-clonic convulsions, photosensitive migraine, postural tremor, fatigue, intermittent dystonia, shortness of breath, mild bilateral ptosis, optic atrophy, jerky ocular pursuit movements, pes planus |  |

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