T14674C-F1

**Figure 1\. Pedigree diagram for family T14674C\-F1\.**

![](/media/202606/20260626171038120794.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\-F1 | UK | Myopathy | 6 | 2 | 2009 | [19720722](https://pubmed.ncbi.nlm.nih.gov/19720722/) |  |

The **m.14674T\>C** variant in MT\-TE was reported in family T14674C\-F1 from UK with myopathy. The pedigree record reported 6 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was hypotonia, myopathy, ventilator\-dependent, tube\-feeding, hepatic involvement, reversible weakness, residual myopathy, mild motor developmental delay.

# 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\-F1 | T14674C\-F1\-II8 | Fam | M | Y | Y | A | 22 months | Homo | Homo | / | / | hypotonia, myopathy, ventilator\-dependent, tube\-feeding, hepatic involvement, reversible weakness, residual myopathy |  |
| 2 | 14674 | m.14674T\>C | T14674C\-F1 | T14674C\-F1\-I2 | Uninf | F | N | Y | A | ND | / | Homo | / | / | mild motor developmental delay, anaemia, poor weight gain |  |
| 3 | 14674 | m.14674T\>C | T14674C\-F1 | T14674C\-F1\-II7 | Fam | F | N | Y | A | ND | Homo | / | / | / | anaemia, poor weight gain |  |

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