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http://purl.uniprot.org/citations/23836383http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23836383http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23836383http://www.w3.org/2000/01/rdf-schema#comment"

Importance

Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of "MitoExome" sequencing (deep sequencing of the entire mitochondrial genome and the coding exons of >1000 nuclear genes encoding the mitochondrial proteome) allowed us to reveal an unusual clinical variant of complex I deficiency due to a novel homozygous mutation in ACAD9. The patient had an infantile-onset but slowly progressive encephalomyopathy and responded favorably to riboflavin therapy.

Observation

A 13-year-old boy had exercise intolerance, weakness, and mild psychomotor delay. Muscle histochemistry showed mitochondrial proliferation, and biochemical analysis revealed severe complex I deficiency (15% of normal). The level of complex I holoprotein was reduced as determined by use of Western blot both in muscle (54%) and in fibroblasts (57%).

Conclusions and relevance

The clinical presentation of complex I deficiency due ACAD9 mutations spans from fatal infantile encephalocardiomyopathy to mild encephalomyopathy. Our data support the notion that ACAD9 functions as a complex I assembly protein. ACAD9 is a flavin adenine dinucleotide-containing flavoprotein, and treatment with riboflavin is advisable."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.org/dc/terms/identifier"doi:10.1001/jamaneurol.2013.3197"xsd:string
http://purl.uniprot.org/citations/23836383http://purl.org/dc/terms/identifier"doi:10.1001/jamaneurol.2013.3197"xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Calvo S."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Calvo S."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Mootha V.K."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Mootha V.K."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Bruno C."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Bruno C."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Dimauro S."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Dimauro S."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Donati M.A."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Donati M.A."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Garcia-Diaz B."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Garcia-Diaz B."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Garone C."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Garone C."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Sacchini M."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/author"Sacchini M."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/name"JAMA Neurol."xsd:string
http://purl.uniprot.org/citations/23836383http://purl.uniprot.org/core/name"JAMA Neurol."xsd:string
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