Document Detail


Distal myopathy with rimmed vacuoles in a case of opercular syndrome.
MedLine Citation:
PMID:  16503389     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought to be identical to hereditary inclusion body myopathy (HIBM). Our results indicate the possibility that other organs such as the central nervous system could be affected in DMRV/HIBM, although bilateral opercular lesions might have been caused by destructive events either in utero or in the perinatal period.
Authors:
Yoshitaka Toriumi; Yuichi Takusa; Atsushi Uchiyama; Masahiko Kimura; Hitoshi Sejima; Seiji Yamaguchi; Isematsu Eda; Ichizo Nishino; Ikuya Nonaka
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2006-02-28
Journal Detail:
Title:  Brain & development     Volume:  28     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-06-26     Completed Date:  2006-09-19     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  458-61     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Shimane University School of Medicine, Izumo 693-8501, Japan. toriumi@r3.dion.ne.jp
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MeSH Terms
Descriptor/Qualifier:
Adult
Distal Myopathies / genetics,  pathology*,  physiopathology
Humans
Magnetic Resonance Imaging / methods
Male
Multienzyme Complexes / genetics
Muscle Fibers, Skeletal / pathology,  physiology
Muscle, Skeletal / pathology,  physiopathology*
Mutation
Tomography, X-Ray Computed / methods
Vacuoles / pathology*
Chemical
Reg. No./Substance:
0/Multienzyme Complexes; 0/UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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