Article
Pancreatitis in RYR1-related disorders.
Neuromuscular disorders : NMD - 1 Oct 2023
Famili Dennis T, Mistry Arti, Gerasimenko Oleg, Gerasimenko Julia, Tribe Rachel M, Kyrana Eirini, Dhawan Anil, Goldberg Michael F, Voermans Nicol, Willis Tracey, Jungbluth Heinz
Abstract excerpt
Mutations in RYR1 encoding the ryanodine receptor (RyR) skeletal muscle isoform (RyR1) are a common cause of inherited neuromuscular disorders. Despite its expression in a wide range of tissues, non-skeletal muscle manifestations associated with RYR1 mutations have only been rarely reported. Here, we report three patients with a diagnosis of Central Core Disease (CCD), King-Denborough Syndrome (KDS) and Malignant...
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