T5814C-F3

**Figure 1\. Pedigree diagram for family T5814C\-F3\.**

![](/media/202606/20260622115823296664.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5814 | m.5814T\>C | T5814C\-F3 | Italy | Mitochondrial encephalomyopathy | 2 | 1 | 1997 | [9185178](https://pubmed.ncbi.nlm.nih.gov/9185178/) |  |

The **m.5814T\>C** variant in MT\-TC was reported in family T5814C\-F3 from Italy with mitochondrial encephalomyopathy. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was moderate diffuse bradykinesia, short stature, ophthalmoparesis, hearing impairment, unsteady gait, nystagmus, absent tendon reflexes, myoclonic jerks.

# 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 | 5814 | m.5814T\>C | T5814C\-F3 | T5814C\-F3\-II2 | uninf | F | N | Y | A | 63 | 88% | / | / | / | Moderate diffuse bradykinesia |  |
| 2 | 5814 | m.5814T\>C | T5814C\-F3 | T5814C\-F3\-III2 | Fam | F | Y | Y | D | 33 | 96% | 98% | / | / | Short stature, ophthalmoparesis, hearing impairment, unsteady gait, nystagmus, absent tendon reflexes, myoclonic jerks, generalized tonic\-clonic seizures, respiratory insufficiency, easy fatigability, droopy eyelids, limited eye movements, bradykinesia |  |
| 3 | 5814 | m.5814T\>C | T5814C\-F3 | T5814C\-F3\-III3 | Fam | M | N | N | A | 22 | 74% | / | / | / | Healthy |  |
| 4 | 5814 | m.5814T\>C | T5814C\-F3 | T5814C\-F3\-IV1 | Fam | F | N | N | A | ND | 92% | / | / | / | Healthy |  |

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