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Article

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

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Dec 2020

Huang Kun, Duan Hui-Qian, Li Qiu-Xiang, Luo Yue-Bei, Yang Huan

Abstract excerpt

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 of clinical features, including skeletal muscle weakness and multisystem dysfunctions. However, MADD, as well as...

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Identifiers

PMID: 32608139
DOI: 10.1111/neup.12667

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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