Haiyan Zhou Suzanne Lillis Ryan E Loy Farshid Ghassemi Michael R Rose Fiona Norwood Kerry Mills Safa Al-Sarraj Russell J M Lane Lucy Feng Emma Matthews Caroline A Sewry Stephen Abbs Stefan Buk Michael Hanna Susan Treves Robert T Dirksen Gerhard Meissner Francesco Muntoni Heinz Jungbluth
10.1016/j.nmd.2009.12.005
Neuromuscul Disord
2010 Mar;20(3):166-73.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/20080402/
Muscle, Skeletal / pathology Muscular Diseases / genetics Muscular Diseases / pathology Mutation / genetics Ryanodine Receptor Calcium Release Channel / genetics
Muscle, Skeletal / pathology Muscular Diseases / genetics Muscular Diseases / pathology Mutation / genetics Ryanodine Receptor Calcium Release Channel / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Arginine / genetics Caffeine / pharmacology Calcium / metabolism Calcium Channels / genetics Calcium Channels, L-Type / genetics Calcium Channels, L-Type / metabolism Cell Line, Transformed DNA Mutational Analysis / methods Electron Transport Complex IV / drug effects Family Health Female Humans Lysine / genetics Male Membrane Potentials / drug effects Membrane Potentials / genetics Muscular Diseases / classification NAV1.4 Voltage-Gated Sodium Channel Patch-Clamp Techniques Phosphodiesterase Inhibitors / pharmacology Ryanodine / metabolism Ryanodine Receptor Calcium Release Channel / metabolism Sodium Channels / genetics Transfection / methods Tritium / metabolism CACNA1S protein, human Calcium Channels Calcium Channels, L-Type NAV1.4 Voltage-Gated Sodium Channel Phosphodiesterase Inhibitors Ryanodine Receptor Calcium Release Channel SCN4A protein, human Sodium Channels Tritium Ryanodine Caffeine Arginine Electron Transport Complex IV Lysine Calcium
PMC3136116
20080402
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
2010