T5814C-F5

**Figure 1\. Pedigree diagram for family T5814C\-F5\.**

![](/media/202606/20260622120001247673.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\-F5 | Italy | Encephalomyopathy | 4 | 3 | 2007 | [17241783](https://pubmed.ncbi.nlm.nih.gov/17241783/) |  |

The **m.5814T\>C** variant in MT\-TC was reported in family T5814C\-F5 from Italy with encephalomyopathy. The pedigree record reported 4 unaffected and 3 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in 8/9 listed carriers; 4/9 carriers were affected, and the main clinical manifestation among affected carriers was mild scoliosis, slight dilatation of cerebral sulci, moderate atrophy of cerebellar vermis, chronic headache, short stature, microcephaly, mild diffuse hypotonia, profound mental retardation.

# 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\-F5 | T5814C\-F5\-I2 | uninf | F | N | ND | A | ND | Homo | / | / | / | ND |  |
| 2 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II2 | fam | F | N | Y | A | 45 | Homo | Homo | / | / | Mild scoliosis, slight dilatation of cerebral sulci, moderate atrophy of cerebellar vermis |  |
| 3 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II3 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II4 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 5 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II5 | fam | M | N | Y | A | 38 | Homo | / | / | / | Chronic headache, short stature, microcephaly |  |
| 6 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II6 | fam | F | N | Y | A | 31 | Homo | / | / | / | Mild diffuse hypotonia |  |
| 7 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-III1 | fam | F | Y | Y | A | 30 | Homo | Homo | / | / | Profound mental retardation, epilepsy, tetraplegia, plastic hypertonia, hypotonia, diffuse muscle wasting, postural tremor, intentional tremor, fine tremor, decreased tendon reflexes, deafness, bilateral retinal dystrophy, psychomotor agitation, aggressiveness, bladder retention, short stature, low weight, microcephaly, coarse face, generalized spasticity, lip cyanosis, arm extension, generalized jerks |  |
| 8 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-III2 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 9 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-III3 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |

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