C14680A-F1

**Figure 1\. Pedigree diagram for family C14680A\-F1\.**

![](/media/202606/20260626170634434034.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14680 | m.14680C\>A | C14680A\-F1 | USA | Persistent fatigue, weakness, dyspnea, headache, unsteady gait, facial weakness, facial grimaces, limb weakness, ataxia, dysmetria, impaired movement | 2 | 1 | 2007 | [17715279](https://pubmed.ncbi.nlm.nih.gov/17715279/) |  |

The **m.14680C\>A** variant in MT\-TE was reported in family C14680A\-F1 from USA with persistent fatigue, weakness, dyspnea, headache, unsteady gait, facial weakness, facial grimaces, limb weakness, ataxia, dysmetria, impaired movement. 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 persistent fatigue, weakness, dyspnea, headache, unsteady gait, facial weakness, facial grimaces, limb weakness.

# 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 | 14680 | m.14680C\>A | C14680A\-F1 | C14680A\-F1\-I2 | Uninf | F | N | N | A | ND | \<5% | / | 12% | 13% (BM), trace/trace/35% (H) | Healthy |  |
| 2 | 14680 | m.14680C\>A | C14680A\-F1 | C14680A\-F1\-II1 | Fam | M | Y | Y | A | 14 | 83% | 98% | 96% | \>99% (BM), 98\-99% (H) | Persistent fatigue, weakness, dyspnea, headache, unsteady gait, facial weakness, facial grimaces, limb weakness, ataxia, dysmetria, impaired movement |  |
| 3 | 14680 | m.14680C\>A | C14680A\-F1 | C14680A\-F1\-II2 | Fam | M | N | Y | A | 12 years | 0% | / | 0% | 0% (BM), 0% (H) | Autistic features/possible Asperger syndrome, clumsy, decreased muscle tone, mild proximal arm weakness |  |
| 4 | 14680 | m.14680C\>A | C14680A\-F1 | C14680A\-F1\-II3 | Fam | F | N | N | A | 10 years | 0% | / | 0% | 0% (BM), 0% (H) | Healthy |  |

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