De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

Muscle and Nerve

Volumn 49, Issue 2, 2014, Pages 289-292

  Maier, André ^a   Klopocki, Eva ^a   Horn, Denise ^a   Tzschach, Andreas ^b   Holm, Teresa ^a   Meyer, Robert ^a   Meyer, Thomas ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Array comparative genomic hybridization; Ataxia; Complicated spastic paraplegia; Frontotemporal dementia; Glutamate receptor delta 2 subunit precursor protein; GRID2

Indexed keywords

GLUTAMATE RECEPTOR 2; PROTEIN PRECURSOR;

ADULT; AMNESIA; ANAMNESIS; ARTICLE; ATAXIA; BABINSKI REFLEX; BRAIN ATROPHY; CASE REPORT; CEREBELLUM; CHROMOSOME ANALYSIS; CHRONIC DISEASE; CLONUS; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DYSARTHRIA; DYSMETRIA; DYSPHAGIA; ELECTROMYOGRAPHY; EXON; FRONTOTEMPORAL DEMENTIA; GENE; GENE DELETION; GENOME; GRID2 GENE; HAND MUSCLE; HUMAN; HUMAN TISSUE; INFORMATION PROCESSING; LATENT PERIOD; LEG; LONG TERM MEMORY; MALE; MOLECULAR GENETICS; MOTONEURON; MOTOR UNIT; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE TONE; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SPASTIC PARAPLEGIA; SPASTICITY; SPINE; SURAL NERVE; TENDON REFLEX; TIBIAL NERVE; WALKING; WORKING MEMORY; YOUNG ADULT;

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ATAXIA; COMPLICATED SPASTIC PARAPLEGIA; FRONTOTEMPORAL DEMENTIA; GLUTAMATE RECEPTOR DELTA-2 SUBUNIT PRECURSOR PROTEIN; GRID2;

BRAIN; CEREBELLAR ATAXIA; CHROMOSOMES, HUMAN, PAIR 4; COMORBIDITY; ELECTROMYOGRAPHY; EXONS; FRONTOTEMPORAL DEMENTIA; GENE DELETION; GENE DOSAGE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUSCULAR ATROPHY; PARAPLEGIA; RECEPTORS, GLUTAMATE; YOUNG ADULT;

EID: 84892497194     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24096     Document Type: Article

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