Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A

(2011) Zhi-Qiang Wang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy

(2010) M-Y Lan et al.   CLINICAL GENETICS

Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy

(2010) Pornswan Wasant et al.   PEDIATRIC NEUROLOGY

(PS)2-v2: template-based protein structure prediction server

(2009) Chih-Chieh Chen et al.   BMC BIOINFORMATICS

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

(2009) Wen-Chen Liang et al.   NEUROMUSCULAR DISORDERS

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

(2008) Christina B. Pedersen et al.   HUMAN GENETICS

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2

(2008) Yuka Yotsumoto et al.   MOLECULAR GENETICS AND METABOLISM