Article
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Pediatric nephrology (Berlin, Germany) - 1 Dec 2017
Vivante Asaf, Ityel Hadas, Pode-Shakked Ben, Chen Jing, Shril Shirlee, van der Ven Amelie T, Mann Nina, Schmidt Johanna Magdalena, Segel Reeval, Aran Adi, Zeharia Avraham, Staretz-Chacham Orna, Bar-Yosef Omer, Raas-Rothschild Annick, Landau Yuval E, Lifton Richard P, Anikster Yair, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: Rhabdomyolysis is a clinical emergency that may cause acute kidney injury (AKI). It can be acquired or due to monogenic mutations. Around 60 different rare monogenic forms of rhabdomyolysis have been reported to date. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to nonspecific presentation, the high number of causative genes, and current lack of data on...
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