A Novel Homozygous Abnormal Splice Variant in the Myoferlin Gene Leading to Floppy Infant Syndrome in a Saudi Family
Myoferlin (MYOF) (OMIM#604603) is a type II membrane protein that belongs to the ferlin family, which is expressed in cardiac and skeletal muscles. This protein has seven C2 domains that mediate calcium-dependent membrane fusion events and membrane trafficking, while MYOF dysfunction is associated w...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
King Salman Center for Disability Research
2023-10-01
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| মালা: | Journal of Disability Research |
| অনলাইন ব্যবহার করুন: | https://www.scienceopen.com/hosted-document?doi=10.57197/JDR-2023-0049 |
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