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MT-ND3
A10372G
C10134A
C10134A-F1
C10350A
G10197A
G10197A-F2
G10197A-F15
G10197A-F13
G10197A-F9
G10197A-F7
G10197A-F6
G10197A-F3
G10197A-F1
G10197C
G10254A
T10158C
T10158C-F10
T10158C-F9
T10158C-F5
T10189C
T10191C
T10191C-F15
T10191C-F14
T10191C-F13
T10237C
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G10197A-F6
**Figure 1\. Pedigree diagram for family G10197A\-F6\.**  | | | --- | # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 10197 | m.10197G\>A | G10197A\-F6 | China | Limited eye movement and ataxia Limited eye movement, ataxia, bulbar palsy | 0 | 1 | 2018 | [30128709](https://pubmed.ncbi.nlm.nih.gov/30128709/) | | The **m.10197G\>A** variant in MT\-ND3 was reported in family G10197A\-F6 from China with limited eye movement and ataxia limited eye movement, ataxia, bulbar palsy. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was limited eye movement and ataxia, limited eye movement, ataxia, bulbar palsy. # 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 | 10197 | m.10197G\>A | G10197A\-F6 | G10197A\-F6\-Ⅰ1 | Uninf | F | Y | Y | ND | 14 y | 68% | / | / | / | Limited eye movement and ataxia | | | 2 | 10197 | m.10197G\>A | G10197A\-F6 | G10197A\-F6\-Ⅱ1 | Fam | M | Y | Y | ND | 22 y | 45% | / | / | / | Limited eye movement, ataxia, bulbar palsy | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月29日 23:24
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