Distal myopathy with rimmed vacuoles in a case of opercular syndrome

Brain and Development

Volumn 28, Issue 7, 2006, Pages 458-461

  Toriumi, Yoshitaka ^a   Takusa, Yuichi ^a   Uchiyama, Atsushi ^a   Kimura, Masahiko ^a   Sejima, Hitoshi ^a   Yamaguchi, Seiji ^a   Eda, Isematsu ^b   Nishino, Ichizo ^c,d   Nonaka, Ikuya ^c,d  

^a SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^b Department of Pediatrics   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

Distal myopathy with rimmed vacuoles (DMRV); GNE (UDP N acetylglucosamine 2 epimerase N acetylmannosamine kinase) gene; Hereditary inclusion body myopathy (HIBM); Opercular syndrome; Rimmed vacuoles

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CENTRAL NERVOUS SYSTEM INFECTION; COMPUTER ASSISTED TOMOGRAPHY; CORTICAL DYSPLASIA; DIFFERENTIAL DIAGNOSIS; DISTAL MYOPATHY; DISTAL MYOPATHY WITH RIMMED VACUOLE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY INCLUSION BODY MYOPATHY; HOMOZYGOSITY; HUMAN; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE DISEASE; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPERCULAR SYNDROME; PERINATAL PERIOD; URIDINE DIPHOSPHATE N ACETYLGALACTOSAMINE 2 EPIMERASE N ACETYLMANNOSAMINE KINASE GENE; VASCULAR DISEASE;

ADULT; DISTAL MYOPATHIES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MULTIENZYME COMPLEXES; MUSCLE FIBERS; MUSCLE, SKELETAL; MUTATION; TOMOGRAPHY, X-RAY COMPUTED; VACUOLES;

EID: 33745472572     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2005.12.005     Document Type: Article

References (11)

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