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MT-TE
A14693G
A14693G-F3
A14693G-F2
A14693G-F4
A14693G-F1
A14696G
A14696G-F2
A14696G-F1
C14680A
C14680A-F1
C14701T
C14701T-F1
G14685A
G14685A-F1
G14710A
G14724A
G14739A
T14674C
T14674C-F18
T14674C-F17
T14674C-F16
T14674C-F15
T14674C-F11
T14674C-F3
T14674C-F2
T14674C-F1
T14674G
T14687C
T14709C
T14709C-F10
T14709C-F9
T14709C-F8
T14709C-F7
T14709C-F6
T14709C-F5
T14709C-F4
T14709C-F3
T14709C-F2
T14709C-F1
T14723C
T14723C-F1
T14728C
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T14709C-F10
**Figure 1\. Pedigree diagram for family T14709C\-F10\.**  # 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\-F10 | Tunisia | Diabetes mellitus, high blood pressure | 6 | 8 | 2010 | [20045353](https://pubmed.ncbi.nlm.nih.gov/20045353/) | | The **m.14709T\>C** variant in MT\-TE was reported in family T14709C\-F10 from Tunisia with diabetes mellitus, high blood pressure. The pedigree record reported 6 unaffected and 8 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, high blood pressure. # 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\-F10 | T14709C\-F10\-III4 | Fam | F | Y | Y | A | 50 | 80\.7% | / | / | / | Diabetes mellitus, high blood pressure | | | 2 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-IV1 | Fam | F | N | N | A | ND | 49\.7% | / | / | / | Healthy | | | 3 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-IV2 | Fam | F | N | N | A | ND | 24\.46% | / | / | / | Healthy | | | 4 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-IV3 | Fam | M | N | N | A | ND | 0% | / | / | / | Healthy | | | 5 | 14709 | m.14709T\>C | T14709C\-F10 | T14709C\-F10\-IV4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月26日 17:18
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