Article
Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function.
Disease models & mechanisms - 18 Sept 2019
Chagovetz Alexis A, Klatt Shaw Dana, Ritchie Erin, Hoshijima Kazuyuki, Grunwald David J
Abstract excerpt
Mutations affecting ryanodine receptor (RyR) calcium release channels commonly underlie congenital myopathies. Although these channels are known principally for their essential roles in muscle contractility, mutations in the human RYR1 gene result in a broad spectrum of phenotypes, including muscle weakness, altered proportions of fiber types, anomalous muscle fibers with cores or centrally placed nuclei, and...
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