T14709C-F1

**Figure 1\. Pedigree diagram for family T14709C\-F1\.**

![](/media/202607/20260721141500173863.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14709 | m.14709T\>C | T14709C\-F1 | USA | Myopathy, diabetes mellitus | 6 | 0 | 1995 | [7726154](https://pubmed.ncbi.nlm.nih.gov/7726154/) |  |

The **m.14709T\>C** variant in MT\-TE was reported in family T14709C\-F1 from USA with myopathy, diabetes mellitus. The pedigree record reported 6 unaffected and 0 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 1/7 carriers were affected, and the main clinical manifestation among affected carriers was myopathy, mild pyramidal signs, diabetes mellitus.

# 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 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-I1 | Uninf | F | N | N | A | ND | 51% | / | / | 41% (H) | Healthy |  |
| 2 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-II1 | Fam | M | N | N | A | ND | 21% | / | / | 44% (H) | Healthy |  |
| 3 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-II2 | Fam | M | N | N | A | ND | 22% | / | / | 32% (H) | Healthy |  |
| 4 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-II3 | Fam | F | N | N | A | ND | 65% | / | / | 71% (H) | Healthy |  |
| 5 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-III1 | Fam | M | N | N | A | ND | 79% | / | / | 90% (H) | Healthy |  |
| 6 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-III2 | Fam | F | N | N | A | ND | 55% | / | / | 79% (H) | Healthy |  |
| 7 | 14709 | m.14709T\>C | T14709C\-F1 | T14709C\-F1\-III3 | Fam | M | Y | Y | A | 29 | 88% | 94% | / | 93% (H) | Myopathy, mild pyramidal signs, diabetes mellitus |  |

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