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Article

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.

Journal of the neurological sciences - 15 Apr 2020

Nilipour Yalda, Fatehi Farzad, Sanatinia Saleheh, Bradshaw Anna, Duff Jennifer, Lochmüller Hanns, Horvath Rita, Nafissi Shahriar

Abstract excerpt

INTRODUCTION: Multiple acyl-coenzyme A dehydrogenase deficiency disorder (MADD) is a relatively rare disorders of lipid metabolism. This study aimed to investigate the demographic, clinical, and genetic features of MADD in Iran. METHODS: Twenty-nine patients with a definite diagnosis of lipid storage myopathy were recruited. All patients were tested for mutation in the ETFDH gene, and 19 had a biallelic mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32007756
DOI: 10.1016/j.jns.2020.116707

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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