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MT-ND4L
A10543G
G10680A
G10680A-F1
G10680A-F5
T10591G
T10609C
T10609C-F1
T10652C
T10663C
T10663C-F7
T10663C-F1
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G10680A-F1
**Figure 1\. Pedigree diagram for family G10680A\-F1\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 10680 | m.10680G\>A | G10680A\-F1 | China | LHON | 0 | 14 | 2009 | [19394449](https://pubmed.ncbi.nlm.nih.gov/19394449/) | Carrying T14484C | The **m.10680G\>A** variant in MT\-ND4L was reported in family G10680A\-F1 from China with lhon. The pedigree record reported 0 unaffected and 14 affected maternal relatives, and the carrier table includes 15 listed carriers. Homoplasmy was reported in 12/15 listed carriers; 15/15 carriers were affected, and the main clinical manifestation among affected carriers was lhon. # 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 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-III1 | Fam | F | N | Y | A | 54 | Homo | / | / | / | LHON | | | 2 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-III2 | Fam | F | N | Y | A | 50 | Homo | / | / | / | LHON | | | 3 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-III3 | Fam | F | N | Y | A | 42 | Homo | / | / | / | LHON | | | 4 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-III4 | Fam | F | N | Y | A | 36 | Homo | / | / | / | LHON | | | 5 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV1 | Fam | F | N | Y | A | 30 | Homo | / | / | / | LHON | | | 6 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV2 | Fam | F | N | Y | A | 27 | Homo | / | / | / | LHON | | | 7 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV4 | Fam | M | N | Y | A | 23 | Homo | / | / | / | LHON | | | 8 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV5 | Fam | F | N | Y | A | 19 | Homo | / | / | / | LHON | | | 9 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV8 | Fam | F | N | Y | A | 16 | Homo | / | / | / | LHON | | | 10 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV9 | Fam | M | N | Y | A | 11 | Homo | / | / | / | LHON | | | 11 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV10 | Fam | F | N | Y | A | 15 | Homo | / | / | / | LHON | | | 12 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV11 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | LHON | | | 13 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV3 | Fam | M | N | Y | A | 25 | / | / | / | / | LHON | | | 14 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV6 | Fam | F | N | Y | A | 14 | / | / | / | / | LHON | | | 15 | 10680 | m.10680G\>A | G10680A\-F1 | G10680A\-F1\-IV7 | Fam | M | N | Y | A | 10 | / | / | / | / | LHON | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年7月1日 01:23
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