Muscle-eye-brain disease. Presentation of one case with genetic study;Trastorno músculo-ojo-cerebro. Presentación de un caso con estudio genético

Neurologia

Volumn 20, Issue 5, 2005, Pages 261-266

  Pascual Castroviejo, Ignacio ^a,e   Pascual Pascual, S I ^a   Gutierrez Molina M ^a   Saarinen, A ^b   Joensuu, T H ^b   Bayes M ^c   Cormand, B ^d  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b UNIVERSITY OF HELSINKI   (Finland)

^c CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

^e NONE   (Spain)

Author keywords

Cobblestone complex image at MRI; Congenital muscular dystrophies; Encephalopathy; Lisencephaly pachigyria; Muscle eye brain disease; Neuronal migration disorders; POMGnT1 gene

Indexed keywords

ADULT; ARTICLE; BRAIN BIOPSY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; ELECTRORETINOGRAM; EVOKED VISUAL RESPONSE; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MUSCLE EYE BRAIN DISEASE; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; VISUAL ACUITY;

ADULT; ATROPHY; BRAIN; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR DYSTROPHIES; N-ACETYLGLUCOSAMINYLTRANSFERASES; NERVE FIBERS, MYELINATED; POINT MUTATION; SYNDROME; VISION DISORDERS;

EID: 22144431930     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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