Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy. [electronic resource]
Producer: 20091029Description: 2170-9 p. digitalISSN:- 1460-2156
- 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
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Publication Type: Journal Article
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