Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.

Kollberg, Gittan

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

Publication Type: Journal Article

1460-2156

10.1093/brain/awp152 doi


Aconitate Hydratase--deficiency
Adolescent
Adult
Aged
Base Sequence
Biopsy
Cells, Cultured
Child
Child, Preschool
Female
Genotype
Humans
Iron-Sulfur Proteins--deficiency
Male
Mitochondria, Muscle--ultrastructure
Mitochondrial Myopathies--genetics
Mitochondrial Proteins--deficiency
Molecular Sequence Data
Muscle, Skeletal--pathology
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction--methods
Polymorphism, Single Nucleotide
Reverse Transcriptase Polymerase Chain Reaction--methods
Young Adult