@article{f42132168dae403788209c2365a8880b,
title = "Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations",
abstract = "To establish the consistency of the previously reported pattern of muscle involvement in a large cohort of patients with molecularly defined ryanodine receptor type 1 (RYR1)-related myopathies, to identify possible additional patterns, and to compare magnetic resonance imaging (MRI) findings with clinical and genetic findings.",
keywords = "Adolescent, Child, Child, Preschool, Cohort Studies, Genes, Dominant, Genes, Recessive, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Muscle, Skeletal, Mutation, Myopathies, Structural, Congenital, Predictive Value of Tests, Ryanodine Receptor Calcium Release Channel, Single-Blind Method, Adolescent, Child, Child, Preschool, Cohort Studies, Genes, Dominant, Genes, Recessive, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Muscle, Skeletal, Mutation, Myopathies, Structural, Congenital, Predictive Value of Tests, Ryanodine Receptor Calcium Release Channel, Single-Blind Method",
author = "Andrea Klein and Heinz Jungbluth and Emma Clement and Suzanne Lillis and Stephen Abbs and Pinki Munot and Marika Pane and Elizabeth Wraige and Ulrike Schara and Volker Straub and Mercuri, \{Eugenio Maria\} and Francesco Muntoni",
year = "2011",
doi = "10.1001/archneurol.2011.188",
language = "English",
volume = "68",
pages = "1171--1179",
journal = "Archives of Neurology",
issn = "0003-9942",
publisher = "American Medical Association",
}