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Article

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.

Muscle & nerve - 1 Mar 2014

Rosenbohm Angela, Süssmuth Sigurd D, Kassubek Jan, Müller Hans-Peter, Pontes Christina, Abicht Angela, Bulst Stefanie, Ludolph Albert C, Pinkhardt Elmar

Abstract excerpt

INTRODUCTION: Glutaric aciduria type II (GAII) is a rare autosomal recessive disorder with variable clinical course. The disorder is caused by a defect in the mitochondrial electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase (ETFDH). METHODS: We performed clinical characterization, brain and whole body MRI, muscle histopathology, and genetic analysis of the ETFDH gene in a young...

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PMID: 23893693
DOI: 10.1002/mus.23979

Genes

ETFDH

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