T14674C-F16

**Figure 1\. Pedigree diagram for family T14674C\-F16\.**

![](/media/202606/20260626171210395907.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14674 | m.14674T\>C | T14674C\-F16 | Sweden | Irritability, lethargy, hypotonia, feeding difficulties, failure to thrive, mild liver involvement, respiratory infection, respiratory failure, dysphagia | 2 | 2 | 2022 | [34806237](https://pubmed.ncbi.nlm.nih.gov/34806237/) |  |

The **m.14674T\>C** variant in MT\-TE was reported in family T14674C\-F16 from Sweden with irritability, lethargy, hypotonia, feeding difficulties, failure to thrive, mild liver involvement, respiratory infection, respiratory failure, dysphagia. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was irritability, lethargy, hypotonia, feeding difficulties, failure to thrive, mild liver involvement, respiratory infection, muscular hypotonia.

# 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 | 14674 | m.14674T\>C | T14674C\-F16 | T14674C\-F16\-I2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 14674 | m.14674T\>C | T14674C\-F16 | T14674C\-F16\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 14674 | m.14674T\>C | T14674C\-F16 | T14674C\-F16\-II6 | Fam | M | Y | Y | A | 1 month | Homo | / | / | / | Irritability, lethargy, hypotonia, feeding difficulties, failure to thrive, mild liver involvement |  |
| 4 | 14674 | m.14674T\>C | T14674C\-F16 | T14674C\-F16\-III1 | Fam | M | N | Y | A | 1 month | Homo | / | / | / | Respiratory infection, feeding difficulties, muscular hypotonia, swallowing difficulties, respiratory failure |  |
| 5 | 14674 | m.14674T\>C | T14674C\-F16 | T14674C\-F16\-III2 | Fam | F | N | Y | A | 2 months | Homo | / | / | / | Feeding difficulties, dysphagia, failure to thrive, muscular hypotonia |  |

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