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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-F9
**Figure 1\. Pedigree diagram for family T14709C\-F9\.**  # 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\-F9 | Tunisia | Diabetes mellitus, retinitis pigmentosa | 8 | 4 | 2010 | [20045353](https://pubmed.ncbi.nlm.nih.gov/20045353/) | | The **m.14709T\>C** variant in MT\-TE was reported in family T14709C\-F9 from Tunisia with diabetes mellitus, retinitis pigmentosa. The pedigree record reported 8 unaffected and 4 affected maternal relatives, and the carrier table includes 13 listed carriers. Homoplasmy was reported in 0/13 listed carriers; 5/13 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, retinitis pigmentosa. # 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\-F9 | T14709C\-F9\-I1 | Uninf | F | N | Y | D | ND | / | / | / | / | Diabetes mellitus | | | 2 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II1 | Fam | F | Y | Y | A | 27 | 57\.3% | / | / | 77% (BM) | Diabetes mellitus | | | 3 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II3 | Fam | F | N | Y | A | 28 | 57\.7% | / | / | 86\.7% (BM) | Diabetes mellitus, retinitis pigmentosa | | | 4 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II4 | Fam | M | N | N | A | ND | 57% | / | / | 81\.7% (BM) | Healthy | | | 5 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II5 | Fam | M | N | N | A | ND | 57\.7% | / | / | 82\.8% (BM) | Healthy | | | 6 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II6 | Fam | F | N | Y | A | 35 | 59% | / | / | 82\.6% (BM) | Diabetes mellitus | | | 7 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-II8 | Fam | F | N | N | A | ND | 59\.2% | / | / | 87\.7% (BM) | Healthy | | | 8 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III1 | Fam | F | N | N | A | ND | 57\.3% | / | / | 86\.3% (BM) | Healthy | | | 9 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III2 | Fam | F | N | N | A | ND | / | / | / | 82\.6% (BM) | Healthy | | | 10 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III3 | Fam | M | N | N | A | 14 | / | / | / | 81\.1% (BM) | Healthy | | | 11 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III4 | Fam | F | N | Y | A | ND | 57\.3% | / | / | 81\.1% (BM) | Diabetes mellitus | | | 12 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III5 | Fam | M | N | N | A | ND | 58\.3% | / | / | 81\.1% (BM) | Healthy | | | 13 | 14709 | m.14709T\>C | T14709C\-F9 | T14709C\-F9\-III6 | Fam | F | N | N | A | ND | 58% | / | / | 81\.4% (BM) | Healthy | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月26日 17:17
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