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A case report on multiple acyl-CoA dehydrogenase deficiency with severe myopathy and osteoporosis.

International journal of rheumatic diseases - 1 Jan 2024

Li Man, Lin Zong-Han, Chen Ying-Cheng, Lin Pan, Xie Yong Xin, Wei James Cheng-Chung

Abstract excerpt

A 35-year-old male patient presented fluctuating bilateral lower extremity weakness for 3 years. Physical examination showed grade 4 proximal muscle weakness in both lower extremities and grade 5 distal muscle weakness. Laboratory data revealed elevated creatine kinase, triglycerides, and cholesterol. Muscle pathology showed deposition of lipid droplet under the sarcolemma. Bone densitometry indicated severe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37737545
DOI: 10.1111/1756-185X.14906

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