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

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

doi:10.1001/archneurol.2011.188

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

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

University of Zurich
Evelina London Children's Healthcare
University College London
Guy's Hospital
University of Duisburg-Essen
Newcastle University

Risultato della ricerca: Contributo in rivista › Articolo

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 originale	Inglese
pagine (da-a)	1171-1179
Numero di pagine	9
Rivista	Archives of Neurology
Volume	68
DOI	https://doi.org/10.1001/archneurol.2011.188
Stato di pubblicazione	Pubblicato - 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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10.1001/archneurol.2011.188

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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.",

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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",

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AU - Klein, Andrea

AU - Jungbluth, Heinz

AU - Clement, Emma

AU - Lillis, Suzanne

AU - Abbs, Stephen

AU - Munot, Pinki

AU - Pane, Marika

AU - Wraige, Elizabeth

AU - Schara, Ulrike

AU - Straub, Volker

AU - Mercuri, Eugenio Maria

AU - Muntoni, Francesco

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

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KW - Child

KW - Child, Preschool

KW - Cohort Studies

KW - Genes, Dominant

KW - Genes, Recessive

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Magnetic Resonance Imaging

KW - Muscle, Skeletal

KW - Mutation

KW - Myopathies, Structural, Congenital

KW - Predictive Value of Tests

KW - Ryanodine Receptor Calcium Release Channel

KW - Single-Blind Method

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Cohort Studies

KW - Genes, Dominant

KW - Genes, Recessive

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Magnetic Resonance Imaging

KW - Muscle, Skeletal

KW - Mutation

KW - Myopathies, Structural, Congenital

KW - Predictive Value of Tests

KW - Ryanodine Receptor Calcium Release Channel

KW - Single-Blind Method

UR - http://hdl.handle.net/10807/6667

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DO - 10.1001/archneurol.2011.188

M3 - Article

SN - 0003-9942

VL - 68

SP - 1171

EP - 1179

JO - Archives of Neurology

JF - Archives of Neurology

ER -

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

Abstract

Keywords

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