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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-F9
**Figure 1\. Pedigree diagram for family A4435G\-F9\.**  # 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\-F9 | China | Essential hypertension | 1 | 6 | 2020 | [https://kns.cnki.net/kcms2/article/abstract?v\=iB5Z0i9DW\_xy9s76nQVTA0EyBcNc5amhYu8aEvAtP8dK5rbTuY13TtcQ88OmyRr8UFmFMOgtUQ5EQ\_mFME1QWAWw0J69FaBCr1qFOwZ2yFq\-haJTkFfCEjQhoS0KNE\_arM\_vCPDkuGvRslJaBr29kH\-BL2b9HVvp3OLRFYMvzQMhmKc8Wxov5w\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=iB5Z0i9DW_xy9s76nQVTA0EyBcNc5amhYu8aEvAtP8dK5rbTuY13TtcQ88OmyRr8UFmFMOgtUQ5EQ_mFME1QWAWw0J69FaBCr1qFOwZ2yFq-haJTkFfCEjQhoS0KNE_arM_vCPDkuGvRslJaBr29kH-BL2b9HVvp3OLRFYMvzQMhmKc8Wxov5w==&uniplatform=NZKPT&language=CHS) | | The **m.4435A\>G** variant in MT\-TM was reported in family A4435G\-F9 from China with essential hypertension. The pedigree record reported 1 unaffected and 6 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 7/8 carriers were affected, and the main clinical manifestation among affected carriers was not available. # 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\-F9 | A4435G\-F9\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Essential hypertension | | | 2 | 4435 | m.4435A\>G | A4435G\-F9 | A4435G\-F9\-II1 | Fam | M | N | Y | A | ND | / | / | / | / | Essential hypertension | | | 3 | 4435 | m.4435A\>G | A4435G\-F9 | A4435G\-F9\-II3 | Fam | M | Y | Y | A | 60 | / | / | / | / | Essential hypertension | | | 4 | 4435 | m.4435A\>G | A4435G\-F9 | A4435G\-F9\-II6 | Fam | F | N | Y | A | 56 | / | / | / | / | Essential hypertension | | | 5 | 4435 | m.4435A\>G | A4435G\-F9 | A4435G\-F9\-II8 | Fam | F | N | Y | A | 53 | / | / | / | / | Essential hypertension | | | 6 | 4435 | m.4435A\>G | A4435G\-F9 | A4435G\-F9\-III6 | Fam | M | N | Y | A | ND | / | / | / | / | Essential hypertension | | | 7 | 4435 | m.4435A\>G | A4435G\-F9 | A4435G\-F9\-III7 | Uninf | M | N | N | A | NA | / | / | / | / | Healthy | | | 8 | 4435 | m.4435A\>G | A4435G\-F9 | A4435G\-F9\-III8 | Fam | M | N | Y | A | 36 | / | / | / | / | Essential hypertension | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月22日 15:51
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