| Congenital fiber-type disproportion. | |
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MedLine Citation:
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PMID: 22172422 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Congenital fiber-type disproportion is a form of congenital myopathy that may be best viewed as a syndrome rather than as a formal diagnosis. The central histologic abnormality is that type 1 fibers are consistently smaller than type 2 fibers by at least 35%-40%. Care is needed in diagnosing patients, as this histologic abnormality can occur in other congenital myopathies and in other neuromuscular disorders. Many of the genetic causes have been identified. Careful surveillance of respiratory function is required in all patients until the specific genetic cause is known and advice can be individualized. |
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Authors:
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Nigel F Clarke |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Seminars in pediatric neurology Volume: 18 ISSN: 1558-0776 ISO Abbreviation: Semin Pediatr Neurol Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9441351 Medline TA: Semin Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 264-71 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Discipline of Paediatrics & Child Health, University of Sydney, Westmead, New South Wales, Australia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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