Kollberg, Gittan <br/><br/>
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.  [electronic resource] 

 -  Brain : a journal of neurology  Aug 2009 
 - 2170-9 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1460-2156 
<br/><br/><label>Standard No.: </label>10.1093/brain/awp152  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aconitate Hydratase--deficiency<br/>Adolescent<br/>Adult<br/>Aged<br/>Base Sequence<br/>Biopsy<br/>Cells, Cultured<br/>Child<br/>Child, Preschool<br/>Female<br/>Genotype<br/>Humans<br/>Iron-Sulfur Proteins--deficiency<br/>Male<br/>Mitochondria, Muscle--ultrastructure<br/>Mitochondrial Myopathies--genetics<br/>Mitochondrial Proteins--deficiency<br/>Molecular Sequence Data<br/>Muscle, Skeletal--pathology<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Polymerase Chain Reaction--methods<br/>Polymorphism, Single Nucleotide<br/>Reverse Transcriptase Polymerase Chain Reaction--methods<br/>Young Adult