Article: article from journal or magazin.
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
Journal Article Research Support, Non-U.S. Gov't --- Old month value: Feb
The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central core disease and nemaline myopathy (core/rod disease) caused by mutations in RYR1. Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients.
DNA Mutational Analysis DNA Primers Exons Genes, Dominant Genotype Haplotypes Humans Linkage (Genetics) Molecular Sequence Data Muscular Diseases/*genetics *Mutation, Missense Myopathy, Central Core/*genetics Pedigree Peptide Fragments Polymorphism, Single-Stranded Conformational Protein Structure, Tertiary/*genetics Reverse Transcriptase Polymerase Chain Reaction Ryanodine Receptor Calcium Release Channel/*genetics Sequence Homology, Amino Acid
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