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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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T10609C-F1
**Figure 1\. Pedigree diagram for family T10609C\-F1\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 10609 | m.10609T\>C | T10609C\-F1 | Kuwait | LHON | 4 | 6 | 2014 | [24568867](https://pubmed.ncbi.nlm.nih.gov/24568867/) | Carrying T10663C; G4541A | The **m.10609T\>C** variant in MT\-ND4L was reported in family T10609C\-F1 from Kuwait with lhon. The pedigree record reported 4 unaffected and 6 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in all listed carriers; 7/11 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 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-V1 | Fam | M | N | Y | A | 24 | Homo | / | / | / | LHON | Carrying T10663C | | 2 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-V2 | Fam | M | N | N | A | 33 | Homo | / | / | / | Healthy | Carrying T10663C; G4541A | | 3 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-V7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10663C; G4541A | | 4 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-V9 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10663C | | 5 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI9 | Fam | M | Y | Y | A | 15 | Homo | / | / | / | LHON | Carrying T10663C | | 6 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI10 | Fam | M | N | Y | A | 18 | Homo | / | / | / | LHON | Carrying T10663C | | 7 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI16 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10663C | | 8 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI17 | Fam | M | N | Y | A | 22 | Homo | / | / | / | LHON | Carrying T10663C | | 9 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI18 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | Carrying T10663C | | 10 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI19 | Fam | M | N | Y | A | 14 | Homo | / | / | / | LHON | Carrying T10663C; G4541A | | 11 | 10609 | m.10609T\>C | T10609C\-F1 | T10609C\-F1\-VI20 | Fam | M | N | Y | A | 12 | Homo | / | / | / | LHON | Carrying T10663C | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年7月1日 01:26
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