T14674C-F18

**Figure 1\. Pedigree diagram for family T14674C\-F18\.**

![](/media/202606/20260626171258608670.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\-F18 | Sweden | Gait instability, poor balance, leg pain, muscle fatigue, feeding difficulty, thin stature, mild cognitive impairment, hypotonia, areflexia, joint contractures, swallowing difficulty, respiratory infection, motor delay | 3 | 1 | 2022 | [34806237](https://pubmed.ncbi.nlm.nih.gov/34806237/) |  |

The **m.14674T\>C** variant in MT\-TE was reported in family T14674C\-F18 from Sweden with gait instability, poor balance, leg pain, muscle fatigue, feeding difficulty, thin stature, mild cognitive impairment, hypotonia, areflexia, joint contractures, swallowing difficulty, respiratory infection, motor delay. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 6 listed carriers. Homoplasmy was reported in 4/6 listed carriers; 2/6 carriers were affected, and the main clinical manifestation among affected carriers was gait unsteadiness, poor balance, leg pain, muscle fatigue, feeding difficulties, thin stature, borderline cognition, general 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\-F18 | T14674C\-F18\-III1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 14674 | m.14674T\>C | T14674C\-F18 | T14674C\-F18\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 14674 | m.14674T\>C | T14674C\-F18 | T14674C\-F18\-IV4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 4 | 14674 | m.14674T\>C | T14674C\-F18 | T14674C\-F18\-IV5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 5 | 14674 | m.14674T\>C | T14674C\-F18 | T14674C\-F18\-IV6 | Fam | F | N | Y | A | 4 | Homo | / | / | / | Gait unsteadiness, poor balance, leg pain, muscle fatigue, feeding difficulties, thin stature, borderline cognition |  |
| 6 | 14674 | m.14674T\>C | T14674C\-F18 | T14674C\-F18\-IV7 | Fam | F | Y | Y | A | Birth | Homo | / | / | / | General hypotonia, areflexia, joint contractures, swallowing difficulty,respiratory infection, motor delay, poor mobility |  |

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