Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. [electronic resource]
Producer: 20110620Description: 271-84 p. digitalISSN:- 1365-2990
- Adolescent
- Adult
- Cell Nucleus -- metabolism
- Child
- Female
- Genes, Recessive
- Humans
- Immunohistochemistry
- Male
- Microscopy, Electron, Transmission
- Mutation
- Myofibrils -- ultrastructure
- Myopathy, Central Core -- genetics
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Ryanodine Receptor Calcium Release Channel -- genetics
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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