Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

Published:2016-03-21 Issue:7 Volume:37 Page:1099-1105
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Fu Hong-xia,Liu Xin-yi,Wang Zhi-qiang,Jin Ming,Wang Dan-ni,He Jun-jie,Lin Min-ting,Wang Ning

Funder

National Natural Science Foundation of China (CN)

National Key Clinical Specialty Discipline Construction Program

Fujian Key Clinical Specialty Discipline Construction Program

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s10072-016-2549-2.pdf

Reference16 articles.

1. Burr ML, Roos JC, Ostör AJ (2008) Metabolic myopathies: a guide and update for clinicians. Curr Opin Rheumatol 20:639–647

2. Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, López LC, Hirano M, Hayashi YK, Nonaka I, Nishino I (2009) Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve 39:333–342

3. Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045–2054

4. Xi J, Wen B, Lin J, Zhu W, Luo S, Zhao C, Li D, Lin P, Lu J, Yan C (2014) Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 37:399–404

5. Wen B, Dai T, Li W, Zhao Y, Liu S, Zhang C, Li H, Wu J, Li D, Yan C (2010) Riboflavin responsive lipid storage myopathy caused by ETFDH gene mutations. J Neurol Neurosurg Psychiatry 81:231–236

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3. A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases;Molecular Genetics & Genomic Medicine;2024-07

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