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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Approach to the diagnosis of congenital myopathies</title><author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><affiliation><nlm:aff id="A1">Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Wang, Ching H" sort="Wang, Ching H" uniqKey="Wang C" first="Ching H." last="Wang">Ching H. Wang</name><affiliation><nlm:aff id="A3">Driscoll Children’s Hospital, Corpus Christi, TX, United States</nlm:aff></affiliation></author><author><name sortKey="Clarke, Nigel" sort="Clarke, Nigel" uniqKey="Clarke N" first="Nigel" last="Clarke">Nigel Clarke</name><affiliation><nlm:aff id="A2">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Jungbluth, Heinz" sort="Jungbluth, Heinz" uniqKey="Jungbluth H" first="Heinz" last="Jungbluth">Heinz Jungbluth</name><affiliation><nlm:aff id="A4">Evelina Children’s Hospital, Department of Paediatric Neurology, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King’s College, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Clinical Neuroscience Division, IoP, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Vainzof, Mariz" sort="Vainzof, Mariz" uniqKey="Vainzof M" first="Mariz" last="Vainzof">Mariz Vainzof</name><affiliation><nlm:aff id="A7">Human Genome Research Center, University of Sao Paulo, Sao Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Dowling, James J" sort="Dowling, James J" uniqKey="Dowling J" first="James J." last="Dowling">James J. Dowling</name><affiliation><nlm:aff id="A8">Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada</nlm:aff></affiliation></author><author><name sortKey="Amburgey, Kimberly" sort="Amburgey, Kimberly" uniqKey="Amburgey K" first="Kimberly" last="Amburgey">Kimberly Amburgey</name><affiliation><nlm:aff id="A8">Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada</nlm:aff></affiliation></author><author><name sortKey="Quijano Roy, Susana" sort="Quijano Roy, Susana" uniqKey="Quijano Roy S" first="Susana" last="Quijano-Roy">Susana Quijano-Roy</name><affiliation><nlm:aff id="A9">Department of Pediatrics, Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ), Garches, France</nlm:aff></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation><nlm:aff id="A10">Children’s Hospital Boston, Boston, MA, United States</nlm:aff></affiliation></author><author><name sortKey="Sewry, Caroline" sort="Sewry, Caroline" uniqKey="Sewry C" first="Caroline" last="Sewry">Caroline Sewry</name><affiliation><nlm:aff id="A11">Dubowitz Neuromuscular Centre, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Wolfson Centre of Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="A13">Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QQ Building, QEII Medical Centre, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Bonnemann, Carsten G" sort="Bonnemann, Carsten G" uniqKey="Bonnemann C" first="Carsten G." last="Bönnemann">Carsten G. Bönnemann</name><affiliation><nlm:aff id="A14">Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24456932</idno><idno type="pmc">5257342</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257342</idno><idno type="RBID">PMC:5257342</idno><idno type="doi">10.1016/j.nmd.2013.11.003</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002081</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002081</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Approach to the diagnosis of congenital myopathies</title><author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><affiliation><nlm:aff id="A1">Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Wang, Ching H" sort="Wang, Ching H" uniqKey="Wang C" first="Ching H." last="Wang">Ching H. Wang</name><affiliation><nlm:aff id="A3">Driscoll Children’s Hospital, Corpus Christi, TX, United States</nlm:aff></affiliation></author><author><name sortKey="Clarke, Nigel" sort="Clarke, Nigel" uniqKey="Clarke N" first="Nigel" last="Clarke">Nigel Clarke</name><affiliation><nlm:aff id="A2">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Jungbluth, Heinz" sort="Jungbluth, Heinz" uniqKey="Jungbluth H" first="Heinz" last="Jungbluth">Heinz Jungbluth</name><affiliation><nlm:aff id="A4">Evelina Children’s Hospital, Department of Paediatric Neurology, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King’s College, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Clinical Neuroscience Division, IoP, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Vainzof, Mariz" sort="Vainzof, Mariz" uniqKey="Vainzof M" first="Mariz" last="Vainzof">Mariz Vainzof</name><affiliation><nlm:aff id="A7">Human Genome Research Center, University of Sao Paulo, Sao Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Dowling, James J" sort="Dowling, James J" uniqKey="Dowling J" first="James J." last="Dowling">James J. Dowling</name><affiliation><nlm:aff id="A8">Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada</nlm:aff></affiliation></author><author><name sortKey="Amburgey, Kimberly" sort="Amburgey, Kimberly" uniqKey="Amburgey K" first="Kimberly" last="Amburgey">Kimberly Amburgey</name><affiliation><nlm:aff id="A8">Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada</nlm:aff></affiliation></author><author><name sortKey="Quijano Roy, Susana" sort="Quijano Roy, Susana" uniqKey="Quijano Roy S" first="Susana" last="Quijano-Roy">Susana Quijano-Roy</name><affiliation><nlm:aff id="A9">Department of Pediatrics, Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ), Garches, France</nlm:aff></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation><nlm:aff id="A10">Children’s Hospital Boston, Boston, MA, United States</nlm:aff></affiliation></author><author><name sortKey="Sewry, Caroline" sort="Sewry, Caroline" uniqKey="Sewry C" first="Caroline" last="Sewry">Caroline Sewry</name><affiliation><nlm:aff id="A11">Dubowitz Neuromuscular Centre, London, United Kingdom</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Wolfson Centre of Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="A13">Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QQ Building, QEII Medical Centre, Nedlands, Western Australia 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Bonnemann, Carsten G" sort="Bonnemann, Carsten G" uniqKey="Bonnemann C" first="Carsten G." last="Bönnemann">Carsten G. Bönnemann</name><affiliation><nlm:aff id="A14">Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States</nlm:aff></affiliation></author></analytic><series><title level="j">Neuromuscular disorders : NMD</title><idno type="ISSN">0960-8966</idno><idno type="eISSN">1873-2364</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9111470</journal-id><journal-id journal-id-type="pubmed-jr-id">2215</journal-id><journal-id journal-id-type="nlm-ta">Neuromuscul Disord</journal-id><journal-id journal-id-type="iso-abbrev">Neuromuscul. Disord.</journal-id><journal-title-group><journal-title>Neuromuscular disorders : NMD</journal-title></journal-title-group><issn pub-type="ppub">0960-8966</issn><issn pub-type="epub">1873-2364</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24456932</article-id><article-id pub-id-type="pmc">5257342</article-id><article-id pub-id-type="doi">10.1016/j.nmd.2013.11.003</article-id><article-id pub-id-type="manuscript">NIHMS831770</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Approach to the diagnosis of congenital myopathies</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>North</surname><given-names>Kathryn N.</given-names></name><xref ref-type="aff" rid="A1">a</xref><xref ref-type="aff" rid="A2">b</xref><xref rid="FN1" ref-type="author-notes">*</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Ching H.</given-names></name><xref ref-type="aff" rid="A3">c</xref></contrib><contrib contrib-type="author"><name><surname>Clarke</surname><given-names>Nigel</given-names></name><xref ref-type="aff" rid="A2">b</xref></contrib><contrib contrib-type="author"><name><surname>Jungbluth</surname><given-names>Heinz</given-names></name><xref ref-type="aff" rid="A4">d</xref><xref ref-type="aff" rid="A5">e</xref><xref ref-type="aff" rid="A6">f</xref></contrib><contrib contrib-type="author"><name><surname>Vainzof</surname><given-names>Mariz</given-names></name><xref ref-type="aff" rid="A7">g</xref></contrib><contrib contrib-type="author"><name><surname>Dowling</surname><given-names>James J.</given-names></name><xref ref-type="aff" rid="A8">h</xref></contrib><contrib contrib-type="author"><name><surname>Amburgey</surname><given-names>Kimberly</given-names></name><xref ref-type="aff" rid="A8">h</xref></contrib><contrib contrib-type="author"><name><surname>Quijano-Roy</surname><given-names>Susana</given-names></name><xref ref-type="aff" rid="A9">i</xref></contrib><contrib contrib-type="author"><name><surname>Beggs</surname><given-names>Alan H.</given-names></name><xref ref-type="aff" rid="A10">j</xref></contrib><contrib contrib-type="author"><name><surname>Sewry</surname><given-names>Caroline</given-names></name><xref ref-type="aff" rid="A11">k</xref><xref ref-type="aff" rid="A12">l</xref></contrib><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Nigel G.</given-names></name><xref ref-type="aff" rid="A13">m</xref></contrib><contrib contrib-type="author"><name><surname>Bönnemann</surname><given-names>Carsten G.</given-names></name><xref ref-type="aff" rid="A14">n</xref></contrib><on-behalf-of>Members of the International Standard of Care Committee for Congenital Myopathies</on-behalf-of></contrib-group><aff id="A1"><label>a</label>Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia</aff><aff id="A2"><label>b</label>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, University of Sydney, Sydney, Australia</aff><aff id="A3"><label>c</label>Driscoll Children’s Hospital, Corpus Christi, TX, United States</aff><aff id="A4"><label>d</label>Evelina Children’s Hospital, Department of Paediatric Neurology, London, United Kingdom</aff><aff id="A5"><label>e</label>Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King’s College, London, United Kingdom</aff><aff id="A6"><label>f</label>Clinical Neuroscience Division, IoP, London, United Kingdom</aff><aff id="A7"><label>g</label>Human Genome Research Center, University of Sao Paulo, Sao Paulo, Brazil</aff><aff id="A8"><label>h</label>Division of Neurology, Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada</aff><aff id="A9"><label>i</label>Department of Pediatrics, Garches Neuromuscular Reference Center (GNMH), APHP Raymond Poincare University Hospital (UVSQ), Garches, France</aff><aff id="A10"><label>j</label>Children’s Hospital Boston, Boston, MA, United States</aff><aff id="A11"><label>k</label>Dubowitz Neuromuscular Centre, London, United Kingdom</aff><aff id="A12"><label>l</label>Wolfson Centre of Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom</aff><aff id="A13"><label>m</label>Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QQ Building, QEII Medical Centre, Nedlands, Western Australia 6009, Australia</aff><aff id="A14"><label>n</label>Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States</aff><author-notes><corresp id="FN1"><label>*</label>Corresponding author at: Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia. Tel.: +61 3 8341 6226; fax: +61 3 9348 1391. <email>kathryn.north@mcri.edu.au</email> (K.N. North)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>1</month><year>2017</year></pub-date><pub-date pub-type="epub"><day>18</day><month>11</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>2</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>23</day><month>1</month><year>2017</year></pub-date><volume>24</volume><issue>2</issue><fpage>97</fpage><lpage>116</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.nmd.2013.11.003</pmc-comment>
<permissions><license license-type="open-access"><license-p>Open access under CC BY-NC-ND license.</license-p></license></permissions><abstract><p id="P1">Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic.</p></abstract><kwd-group><kwd>Congenital myopathy</kwd><kwd>Diagnosis</kwd><kwd>Guidelines</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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