
Severe congenital RYR1 -associated myopathy: The expanding clinicopathologic and genetic spectrum
Author(s) -
Lippincott Williams Wilkins
Publication year - 2013
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0b013e31829886fa
Subject(s) - myopathy , ryr1 , congenital myopathy , neurology , medicine , pediatrics , spectrum (functional analysis) , pathology , psychiatry , biopsy , physics , quantum mechanics , muscle biopsy , ryanodine receptor , calcium