About Mitofam
Add Pedigree
Help
About Mitofam
Add Pedigree
Help
MT-TE
A14693G
A14693G-F3
A14693G-F2
A14693G-F4
A14693G-F1
A14696G
A14696G-F2
A14696G-F1
C14680A
C14680A-F1
C14701T
C14701T-F1
G14685A
G14685A-F1
G14710A
G14724A
G14739A
T14674C
T14674C-F18
T14674C-F17
T14674C-F16
T14674C-F15
T14674C-F11
T14674C-F3
T14674C-F2
T14674C-F1
T14674G
T14687C
T14709C
T14709C-F10
T14709C-F9
T14709C-F8
T14709C-F7
T14709C-F6
T14709C-F5
T14709C-F4
T14709C-F3
T14709C-F2
T14709C-F1
T14723C
T14723C-F1
T14728C
Edit by Mitofam Team
-
+
首页
T14674C-F15
**Figure 1\. Pedigree diagram for family T14674C\-F15\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 14674 | m.14674T\>C | T14674C\-F15 | Sweden | Infantile vomiting, feeding difficulty,failure to thrive, pneumonia, sepsis, hypotonia, muscle weakness, dysphagia | 2 | 0 | 2022 | [34806237](https://pubmed.ncbi.nlm.nih.gov/34806237/) | | The **m.14674T\>C** variant in MT\-TE was reported in family T14674C\-F15 from Sweden with infantile vomiting, feeding difficulty,failure to thrive, pneumonia, sepsis, hypotonia, muscle weakness, dysphagia. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 2/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was infantile vomiting, feeding difficulty, failure to thrive, pneumonia, sepsis, hypotonia, muscle weakness, dysphagia. # 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 | 14674 | m.14674T\>C | T14674C\-F15 | T14674C\-F15\-II2 | Fam | M | Y | Y | A | 1 month | Homo | / | / | / | Infantile vomiting, feeding difficulty,failure to thrive,pneumonia,sepsis,hypotonia, muscle weakness, dysphagia | | | 2 | 14674 | m.14674T\>C | T14674C\-F15 | T14674C\-F15\-II1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 3 | 14674 | m.14674T\>C | T14674C\-F15 | T14674C\-F15\-I2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月26日 17:11
转发
收藏文档
上一篇
下一篇
手机扫码
复制链接
手机扫一扫转发分享
复制链接
分享
链接
类型
密码
更新密码
有效期
Markdown文件
Word文件
PDF文档
PDF文档(打印)