Adult polyglucosan body disease: Proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

Muscle and Nerve

Volumn 37, Issue 4, 2008, Pages 530-536

  Massa, Roberto ^a   Bruno, Claudio ^b,c   Martorana, Alessandro ^a   De Stefano, Nicola ^d   Van Diggelen, Otto P ^e   Federico, Antonio ^d  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF SIENA   (Italy)

^e ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Adult polyglucosan body disease; GBE1 gene mutation; Glycogen branching enzyme; Nerve pathology; Proton magnetic resonance spectroscopic imaging

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; MYELIN;

ADULT; ADULT POLYGLUCOSAN BODY DISEASE; ARTICLE; ATAXIA; BRAIN DAMAGE; BRAIN DEGENERATION; CASE REPORT; DNA EXTRACTION; DYSARTHRIA; DYSMETRIA; DYSPHAGIA; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE AMPLIFICATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; NERVE FIBER; NEUROIMAGING; NEUROLOGIC DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; URINE INCONTINENCE; WHITE MATTER;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; ADULT; BRAIN; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GLUCANS; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MUTATION, MISSENSE; NERVOUS SYSTEM DISEASES; PROTONS;

EID: 41849150760     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20916     Document Type: Article

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