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MT-ND5
A12397G
A12397G-F1
A12770G
A12955G
A12955G-F1
A13045C
A13045G
A13045G-F1
A13084T
A13084T-F1
A13379C
A13379G
A13379G-F1
A13511T
A13514G
A13514G-F5
A13528G
A13528G-F6
A13528G-F5
A13528G-F4
A13528G-F2
A13528G-F1
A13615G
A13637G
A13637G-F1
A13849C
A13849C-F1
A14091T
A14091T-F1
C12350A
C12848T
C12848T-F1
C13565T
C13565T-F1
G12814T
G13042A
G13042A-F3
G13042A-F2
G13051A
G13051A-F3
G13051A-F2
G13063A
G13063A-F1
G13135A
G13135A-F3
G13135A-F2
G13135A-F1
G13138A
G13138A-F1
G13204A
G13513A
G13513A-F74
G13513A-F70
G13513A-F69
G13513A-F60
G13513A-F55
G13513A-F51
G13513A-F48
G13513A-F13
G13513A-F11
G13513A-F10
G13513A-F9
G13513A-F8
G13513A-F6
G13513A-F1
G13730A
T12477C
T12631A
T12706C
T12706C-F6
T12782G
T12811C
T13046C
T13091C
T13091C-F1
T13094C
T13094C-F14
T13094C-F13
T13094C-F10
T13094C-F9
T13094C-F8
T13094C-F7
T13094C-F6
T13271C
T13271C-F1
T13340C
T13376C
T13376C-F1
T14063C
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A13528G-F6
**Figure 1\. Pedigree diagram for family A13528G\-F6\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 13528 | m.13528A\>G | A13528G\-F6 | USA inferred | autism spectrum disorder | 0 | 3 | 2017 | [28419775](https://pubmed.ncbi.nlm.nih.gov/28419775/) | Use cautiously: individual labels/genders/ages/load absent; only aggregate family\-level affected sibling evidence is available.; ASD family 74\-0733; pages 1\-4; USA inferred from ASD cohort/source and affiliations. | The **m.13528A\>G** variant in MT\-ND5 was reported in family A13528G\-F6 from USA inferred with autism spectrum disorder. The pedigree record reported 0 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was autism spectrum disorder.. # 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 | 13528 | m.13528A\>G | A13528G\-F6 | A13528G\-F6\-II1 | Fam | ND | N | Y | A | ND | / | / | / | Positive(LCL) | Autism spectrum disorder. | Anonymous carrier; family also has m.13565C\>T.; pages 1\-4; Source: affected sibling 1 | | 2 | 13528 | m.13528A\>G | A13528G\-F6 | A13528G\-F6\-II3 | Fam | ND | N | Y | A | ND | / | / | / | Positive(LCL) | Autism spectrum disorder. | Anonymous carrier; family also has m.13565C\>T.; pages 1\-4; Source: affected sibling 2 | | 3 | 13528 | m.13528A\>G | A13528G\-F6 | A13528G\-F6\-II4 | Fam | ND | N | Y | A | ND | / | / | / | Positive(LCL) | Autism spectrum disorder. | Anonymous carrier; family also has m.13565C\>T.; pages 1\-4; Source: affected sibling 3 | | 4 | 13528 | m.13528A\>G | A13528G\-F6 | A13528G\-F6\-II5 | Fam | ND | N | Y | A | ND | / | / | / | Positive(LCL) | Autism spectrum disorder. | Anonymous carrier; family also has m.13565C\>T.; pages 1\-4; Source: affected sibling 4 | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年7月1日 01:29
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