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MT-TM
A4415G
A4435G
A4435G-F11
A4435G-F10
A4435G-F9
A4435G-F6
A4435G-F4
A4435G-F3
A4435G-F2
A4435G-F1
C4467A
C4467A-F1
G4403A
G4412A
G4412A-F1
G4450A
G4450A-F2
T4409C
T4414C
T4414C-F1
T4454C
T4454C-F2
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A4435G-F10
**Figure 1\. Pedigree diagram for family A4435G\-F10\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 4435 | m.4435A\>G | A4435G\-F10 | China | Essential hypertension | 8 | 4 | 2021 | [https://kns.cnki.net/kcms2/article/abstract?v\=iB5Z0i9DW\_xJcPqhhZdQW9R9ARub6UtiRd4PqchH89LdS5UX\-LaKYYpr77Pl2PdNJC2xWI\-g2t0ko36dKhG6a6mtVuXDo7VgYf11tovxrBpF3ToluMliHL5kBdOMD\_HeZJlQosB1qJBtuhCWhPi7boDOgci\-6auwTq2m5WLosvzZ4NKLItyCQQ\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=iB5Z0i9DW_xJcPqhhZdQW9R9ARub6UtiRd4PqchH89LdS5UX-LaKYYpr77Pl2PdNJC2xWI-g2t0ko36dKhG6a6mtVuXDo7VgYf11tovxrBpF3ToluMliHL5kBdOMD_HeZJlQosB1qJBtuhCWhPi7boDOgci-6auwTq2m5WLosvzZ4NKLItyCQQ==&uniplatform=NZKPT&language=CHS) | | The **m.4435A\>G** variant in MT\-TM was reported in family A4435G\-F10 from China with essential hypertension. 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 high blood presure. # 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 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Healthy | | | 2 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-II2 | Fam | F | N | Y | A | 66 | / | / | / | / | High blood presure | | | 3 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-II4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 4 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-II6 | Fam | F | N | Y | A | 63 | / | / | / | / | High blood presure | | | 5 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III1 | Fam | M | N | Y | A | 42 | / | / | / | / | High blood presure | | | 6 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 7 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 8 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 9 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 10 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III6 | Fam | F | Y | Y | A | 37 | / | / | / | / | High blood presure | | | 11 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III7 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 12 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III8 | Fam | F | N | N | A | 29 | / | / | / | / | Healthy | | | 13 | 4435 | m.4435A\>G | A4435G\-F10 | A4435G\-F10\-III9 | Fam | F | 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22日 15:52
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