Document Detail

Distal myopathy with rimmed vacuoles in a case of opercular syndrome.
MedLine Citation:
PMID:  16503389     Owner:  NLM     Status:  MEDLINE    
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.
Yoshitaka Toriumi; Yuichi Takusa; Atsushi Uchiyama; Masahiko Kimura; Hitoshi Sejima; Seiji Yamaguchi; Isematsu Eda; Ichizo Nishino; Ikuya Nonaka
Related Documents :
16402949 - Cicatricial entropion and trichiasis in an urban australian population.
11876109 - Fetal thoracic measurements in prenatal diagnosis of jeune syndrome.
15338169 - Congenital duodenal obstruction: does prenatal diagnosis improve the outcome?
12935489 - A 'keyhole lesion' gunshot wound in an adipocere case.
16547979 - Management of a suprasellar arachnoid cyst identified using prenatal sonography.
2312709 - Prenatal development around the sustentaculum tali and its relation to talocalcaneal co...
21419489 - Hydatid cyst, an unusual cause of spontaneous hemothorax and diagnostic thoracoscopy: c...
8813509 - An endoscopic follow-up study of the development of diffuse antral vascular ectasia.
10341509 - Ocular extramedullary myeloid cell tumour in children: an indian study.
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    
Department of Pediatrics, Shimane University School of Medicine, Izumo 693-8501, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Distal Myopathies / genetics,  pathology*,  physiopathology
Magnetic Resonance Imaging / methods
Multienzyme Complexes / genetics
Muscle Fibers, Skeletal / pathology,  physiology
Muscle, Skeletal / pathology,  physiopathology*
Tomography, X-Ray Computed / methods
Vacuoles / pathology*
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

Previous Document:  Drug release from lipid-based implants: elucidation of the underlying mass transport mechanisms.
Next Document:  Protracted juvenile neuronal ceroid lipofuscinosis--an autopsy report and immunohistochemical analys...