Case report: novel etfdh compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type ii

HIGHLIGHTS

• who: Sijia Zhu from the University of Milan, Italy have published the article: Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II, in the Journal: (JOURNAL)
• what: The authors report a 21-year-old male patient who is molecularly confirmed as late-onset GA II.

SUMMARY

Whole-exome sequencing (WES) revealed a compound heterozygous mutation for two variants in the ETFDH gene, namely, a c.1034A>G (p.H345R) in exon 9 and a c.1448C>A (p.P483Q) in exon 11 . . .

 



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