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https://hdl.handle.net/2440/7746
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Type: | Journal article |
Title: | Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene |
Author: | Davis, M. Haan, E. Jungbluth, H. Sewry, C. North, K. Muntoni, F. Kuntzer, T. Lamont, P. Bankier, A. Tomlinson, P. Sanchez, A. Walsh, P. Nagarajan, L. Oley, C. Colley, A. Gedeon, A. Quinlivan, R. Dixon, J. James, D. Muller, C. et al. |
Citation: | Neuromuscular Disorders, 2003; 13(2):151-157 |
Publisher: | Pergamon-Elsevier Science Ltd |
Issue Date: | 2003 |
ISSN: | 0960-8966 1873-2364 |
Abstract: | 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. |
Keywords: | Humans Muscular Diseases Myopathy, Central Core Peptide Fragments Ryanodine Receptor Calcium Release Channel DNA Primers Reverse Transcriptase Polymerase Chain Reaction Pedigree DNA Mutational Analysis Protein Structure, Tertiary Sequence Homology, Amino Acid Genotype Haplotypes Genes, Dominant Mutation, Missense Polymorphism, Single-Stranded Conformational Exons Molecular Sequence Data Genetic Linkage |
DOI: | 10.1016/S0960-8966(02)00218-3 |
Published version: | http://dx.doi.org/10.1016/s0960-8966(02)00218-3 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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