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Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

More than 80 mutations in the skeletal muscle ryanodine receptor gene have been found to be associated with autosomal dominant forms of malignant hyperthermia and central core disease, and with recessive forms of multi-minicore disease. Studies on the functional effects of pathogenic dominant mutati...

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Detalhes bibliográficos
Main Authors: Ducreux, Sylvie, Zorzato, Francesco, Ferreiro, Ana, Jungbluth, Heinz, Muntoni, Francesco, Monnier, Nicole, Müller, Clemens R., Treves, Susan
Formato: Artigo
Idioma:Inglês
Publicado em: Portland Press Ltd. 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1422771/
https://ncbi.nlm.nih.gov/pubmed/16372898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20051282
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