Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference21 articles.
1. Lipid storage myopathy;Liang;Curr. Neurol. Neurosci. Rep.,2011
2. Heterogeneous phenotypes in lipid storage myopathy due to ETFDH gene mutations;Angelini;JIMD Rep.,2018
3. State of the art in muscle lipid diseases;Liang;Acta. Myol.,2010
4. Metabolic myopathies;Tobon;Contin. Lifelong Learn. Neurol.,2013
5. Riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients;Zhu;J. Hum. Genet.,2014
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1. A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene;Journal of Human Genetics;2024-01-17
2. Metabolic Myopathies in the Era of Next-Generation Sequencing;Genes;2023-04-22
3. Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult;AACE Clinical Case Reports;2023-01
4. A Comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene;2022-12-16
5. Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects;Frontiers in Neurology;2022-03-03
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