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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2011-9-13
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1538-3687
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pubmed:author |
pubmed-author:AbbsStephenS,
pubmed-author:ClementEmmaE,
pubmed-author:JungbluthHeinzH,
pubmed-author:KleinAndreaA,
pubmed-author:LillisSuzanneS,
pubmed-author:MercuriEugenioE,
pubmed-author:MunotPinkiP,
pubmed-author:MuntoniFrancescoF,
pubmed-author:PaneMarikaM,
pubmed-author:ScharaUlrikeU,
pubmed-author:StraubVolkerV,
pubmed-author:WraigeElizabethE
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pubmed:issnType |
Electronic
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pubmed:volume |
68
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1171-9
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pubmed:meshHeading |
pubmed-meshheading:21911697-Adolescent,
pubmed-meshheading:21911697-Child,
pubmed-meshheading:21911697-Child, Preschool,
pubmed-meshheading:21911697-Cohort Studies,
pubmed-meshheading:21911697-Genes, Dominant,
pubmed-meshheading:21911697-Genes, Recessive,
pubmed-meshheading:21911697-Humans,
pubmed-meshheading:21911697-Infant,
pubmed-meshheading:21911697-Infant, Newborn,
pubmed-meshheading:21911697-Magnetic Resonance Imaging,
pubmed-meshheading:21911697-Muscle, Skeletal,
pubmed-meshheading:21911697-Mutation,
pubmed-meshheading:21911697-Myopathies, Structural, Congenital,
pubmed-meshheading:21911697-Predictive Value of Tests,
pubmed-meshheading:21911697-Ryanodine Receptor Calcium Release Channel,
pubmed-meshheading:21911697-Single-Blind Method
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pubmed:year |
2011
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pubmed:articleTitle |
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.
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pubmed:affiliation |
Departments of Paediatric Neurology, University Children’s Hospital Zurich, Zurich, Switzerland.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't,
Multicenter Study
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