Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

Marika Pane, Eugenio Maria Mercuri, Andrea Klein, Heinz Jungbluth, Emma Clement, Suzanne Lillis, Stephen Abbs, Pinki Munot, Elizabeth Wraige, Ulrike Schara, Volker Straub, Francesco Muntoni

Risultato della ricerca: Contributo in rivistaArticolo in rivista

67 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)1171-1179
Numero di pagine9
RivistaArchives of Neurology
Volume68
DOI
Stato di pubblicazionePubblicato - 2011

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

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