Investigation of adult‐onset multiple acyl‐CoA dehydrogenase deficiency associated with peripheral neuropathy

Multiple Acyl‐CoA dehydrogenase deficiency (MADD), one of the most common lipid storage myopathies (LSMs), is a heterogeneous inherited muscular disorder that is pathologically characterized by numerous lipid droplets in muscle fibers due to lipid metabolism disturbance. MADD exhibits a wide range o...

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Veröffentlicht in:	Neuropathology 2020-12, Vol.40 (6), p.531-539
Hauptverfasser:	Huang, Kun, Duan, Hui‐Qian, Li, Qiu‐Xiang, Luo, Yue‐Bei, Yang, Huan
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Dehydrogenases lipid droplet Lipid metabolism lipid storage myopathy Lipids multiple acyl‐CoA dehydrogenase deficiency muscular disorder Musculoskeletal system Paresthesia Patients Peripheral neuropathy Riboflavin Skeletal muscle Sural nerve
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