Document Detail


Paramyotonia congenita due to a de novo mutation: a case report.
MedLine Citation:
PMID:  12872329     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Takayasu Fukudome; Hajime Izumoto; Hirofumi Goto; Hidenori Matsuo; Toshiro Yoshimura; Shun-Ichi Sakoda; Noritoshi Shibuya
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Muscle & nerve     Volume:  28     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-07-21     Completed Date:  2003-08-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  232-5     Citation Subset:  IM    
Affiliation:
Department of Neurology, Kawatana National Hospital, 2005-1 Shimogumigo Kawatanamachi Higashisonogi-gun, Nagasaki 859-3615, Japan.
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MeSH Terms
Descriptor/Qualifier:
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:
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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