T14709C-F8

**Figure 1\. Pedigree diagram for family T14709C\-F8\.**

![](/media/202606/20260626171732488695.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\-F8 | Italy | Myopathy, diabetes mellitus | 2 | 2 | 2005 | [15607216](https://pubmed.ncbi.nlm.nih.gov/15607216/) |  |

The **m.14709T\>C** variant in MT\-TE was reported in family T14709C\-F8 from Italy with myopathy, diabetes mellitus. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 3/5 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, myopathy, gestational diabetes, exercise intolerance, decreased ankle jerks, reduced leg vibratory sensation, mixed myopathic neurogenic pattern, axonal motor\-predominant polyneuropathy.

# 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\-F8 | T14709C\-F8\-I2 | Uninf | F | N | Y | A | 84 | 55% | / | 65% | / | Diabetes mellitus |  |
| 2 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-II1 | Fam | M | Y | Y | A | 55 | 50% | 97% | 80% | / | Myopathy, diabetes mellitus |  |
| 3 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-II2 | Fam | F | N | Y | A | 51 | 35% | 70% | 60% | / | Gestational diabetes, exercise intolerance, decreased ankle jerks, reduced leg vibratory sensation, mixed myopathic neurogenic pattern, axonal motor\-predominant polyneuropathy |  |
| 4 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-II3 | Fam | F | N | N | A | 47 | 100% | / | 100% | / | Healthy |  |
| 5 | 14709 | m.14709T\>C | T14709C\-F8 | T14709C\-F8\-III1 | Fam | M | N | N | A | 15 | 35% | / | 100% | / | Healthy |  |

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