Open AccessMulti-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Author(s) -
Hu Zhou,
Suzanne Lillis,
Ryan E. Loy,
Farshid Ghassemi,
Michael R. Rose,
Fioorwood,
Kerry Mills,
Safa AlSarraj,
Russell J.M. Lane,
Lucy Feng,
Emma Matthews,
Caroline A. Sewry,
Stephen Abbs,
Stefan Buk,
Michael G. Hanna,
Susan Treves,
Robert T. Dirksen,
Gerhard Meissner,
Francesco Muntoni,
Heinz Jungbluth
Publication year - 2010
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/hrbk-2487
Subject(s) - ryr1 , ryanodine receptor , hypokalemic periodic paralysis , periodic paralysis , gene , central core disease , skeletal muscle , biology , medicine , paralysis , endocrinology , receptor , genetics , psychiatry , hypokalemia