Genotype-phenotype correlations in recessive RYR1-related myopathies
Genotype-phenotype correlations in recessive RYR1-related myopathies
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. Dominant mutations are most often associated with central core disease and malignant hyperthermia, and genotype-phenotype patterns have emerged from the study of these mutations that have contributed to the understanding of dis...
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Full title
Genotype-phenotype correlations in recessive RYR1-related myopathies
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3751094
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3751094
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-8-117
