Molecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis
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- 作者：Saied A. Jaradata ; sjaradat@just.edu.jo" class="auth_mail" title="E-mail the corresponding author ; Wajdi Amayrehb ; wajdidr@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Kefah Al-Qa'qa'b ; kifah88@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Jan Krayyema ; jankrayyem@googlemail.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：myoglobinuria ; Lipin-1 ; C-LIP domain
- 刊名：Meta Gene
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：7
- 期：Complete
- 页码：90-94
- 全文大小：754 K
文摘
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LPIN1 mutations were cataloged in families with hereditary myoglobinuria.
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A novel missense Gly799Arg mutation was identified.
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Arg725His, the only other known missense mutation, was confirmed to be pathogenic.
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Arg388X, a known nonsense mutation, was the most common among Arabic patients.
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Patients exercise-intolerant between myoglobinuria episodes have a second mutation.