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http://purl.uniprot.org/citations/22508347http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22508347http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22508347http://www.w3.org/2000/01/rdf-schema#comment"

Background

Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes.

Methods

We performed homozygosity mapping and whole-exome sequencing in 2 brothers with brain iron accumulation from a consanguineous family.

Results

We identified a homozygous missense mutation in both brothers in the very recently identified chromosome 19 open-reading frame 12 gene. The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity. Additional features were optic atrophy, peripheral neuropathy, and learning difficulties. A raised serum creatine kinase indicated neuromuscular involvement, and compensatory mitochondrial proliferation implicated mitochondrial dysfunction as a pathological mechanism.

Conclusions

Further studies are needed to explore the function of the chromosome 19 open-reading frame 12 gene, and extended genetic analysis on larger patient cohorts will provide more information about the presentation and frequency of this disease."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.org/dc/terms/identifier"doi:10.1002/mds.24980"xsd:string
http://purl.uniprot.org/citations/22508347http://purl.org/dc/terms/identifier"doi:10.1002/mds.24980"xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Griffin H."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Griffin H."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Foley C."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Foley C."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Hudson G."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Hudson G."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Rahman T."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Rahman T."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Nurnberg G."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Nurnberg G."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Nurnberg P."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Nurnberg P."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Horvath R."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Horvath R."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Lochmuller H."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Lochmuller H."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Hambleton S."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Hambleton S."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Chinnery P.F."xsd:string
http://purl.uniprot.org/citations/22508347http://purl.uniprot.org/core/author"Chinnery P.F."xsd:string
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