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MT-TP
A15958T
A15992G
A15992T
A15992T-F6
A15992T-F5
A15992T-F1
A15998T
C15975T
C15975T-F1
C15990T
G15967A
G15967A-F1
G15995A
G16023A
G16023A-F1
T16002C
T16015C
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G15967A-F1
**Figure 1\. Pedigree diagram for family G15967A\-F1\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 15967 | m.15967G\>A | G15967A\-F1 | UK | MERRF | 3 | 0 | 2009 | [19273760](https://pubmed.ncbi.nlm.nih.gov/19273760/) | | The **m.15967G\>A** variant in MT\-TP was reported in family G15967A\-F1 from UK with merrf. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was merrf, severe reading 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 | 15967 | m.15967G\>A | G15967A\-F1 | G15967A\-F1\-III2 | De novo | F | Y | Y | A | 49 | 0% | 69% | 10% | / | MERRF | | | 2 | 15967 | m.15967G\>A | G15967A\-F1 | G15967A\-F1\-IV1 | Fam | F | N | N | A | ND | ND | ND | ND | ND | Healthy | | | 3 | 15967 | m.15967G\>A | G15967A\-F1 | G15967A\-F1\-IV2 | Fam | F | N | N | A | ND | ND | ND | ND | ND | Healthy | | | 4 | 15967 | m.15967G\>A | G15967A\-F1 | G15967A\-F1\-IV3 | Fam | F | N | Y | A | ND | ND | ND | ND | ND | Severe reading disorder | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月29日 23:43
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