| Paramyotonia congenita due to a de novo mutation: a case report. | |
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MedLine Citation:
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PMID: 12872329 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A Japanese man with a negative family history of paramyotonia congenita (PMC) was evaluated for symptoms of cold-induced weakness and stiffness. Exercise testing revealed findings characteristic of PMC, and a genetic analysis was therefore performed. A well-known sodium channel mutation for PMC (T1313M) was identified in the patient, but was absent in his biological parents. These data demonstrate the occurrence of a de novo mutation, suggesting that evaluation for PMC should be performed in patients with typical symptoms even if the family history is negative. |
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Authors:
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Takayasu Fukudome; Hajime Izumoto; Hirofumi Goto; Hidenori Matsuo; Toshiro Yoshimura; Shun-Ichi Sakoda; Noritoshi Shibuya |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Muscle & nerve Volume: 28 ISSN: 0148-639X ISO Abbreviation: Muscle Nerve Publication Date: 2003 Aug |
Date Detail:
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Created Date: 2003-07-21 Completed Date: 2003-08-22 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7803146 Medline TA: Muscle Nerve Country: United States |
Other Details:
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Languages: eng Pagination: 232-5 Citation Subset: IM |
Affiliation:
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Department of Neurology, Kawatana National Hospital, 2005-1 Shimogumigo Kawatanamachi Higashisonogi-gun, Nagasaki 859-3615, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Base Sequence Electromyography Exercise Test Genetic Markers Haplotypes Humans Male Molecular Sequence Data Muscle Weakness / etiology, physiopathology Mutation / genetics*, physiology* Myotonic Disorders / genetics* Pedigree Reverse Transcriptase Polymerase Chain Reaction Sodium Channels / genetics |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 0/SCN4A protein, human; 0/Sodium Channels |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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