Ann Lab Med.  2018 Nov;38(6):616-618. 10.3343/alm.2018.38.6.616.

Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases

• Kim YJ
• Ko JM
• Song J
• Lee KA

• KMID: 2429132
• DOI: http://doi.org/10.3343/alm.2018.38.6.616

Abstract

No abstract available.

MeSH Terms

Multiple Acyl Coenzyme A Dehydrogenase Deficiency*

Figure

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  Fig. 1 Family pedigrees of two male Korean patients with multiple acyl-CoA dehydrogenase deficiency, carrying recessively inherited ETFDH variants. (A) Patient 1. (B) Patient 2. Affected and unaffected individuals are indicated by closed and open symbols, respectively. ETFDH alleles are represented by ‘[=]’ (wild-type), ‘p.Arg452Gly (c.1354A>G)’, ‘c.831+3A>C’. Exon deletions and mutant alleles were identified by quantitative PCR and Sanger sequencing, respectively.

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