Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of pelizaeus-merzbacher disease

Journal of Child Neurology

Volumn 29, Issue 7, 2014, Pages 924-931

  Laššuthová, Petra ^a   Žaliová, Markéta ^a   Inoue, Ken ^b   Haberlová, Jana ^a   Sixtová, Klára ^c   Sakmaryová, Iva ^a   Paděrová, Kateřina ^a   Mazanec, Radim ^a   Zámečník, Josef ^a   Šišková, Dana ^c   Garbern, Jim ^d   Seeman, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c FAKULTNÍ THOMAYEROVA NEMOCNICE   (Czech Republic)

^d WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Pelizaeus Merzbacher disease; PLP1; Splice site mutations

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG; PLP1 PROTEIN, HUMAN; RNA SPLICING;

ALTERNATIVE RNA SPLICING; ARTICLE; ASPIRATION PNEUMONIA; ASTROCYTOSIS; BABINSKI REFLEX; CASE REPORT; CEREBELLAR ATAXIA; CHILD; DEMYELINATING NEUROPATHY; DEVELOPMENTAL DISORDER; EVOKED BRAIN STEM AUDITORY RESPONSE; EXON; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INDEL MUTATION; LIMITED MOBILITY; MALE; MUSCLE HYPOTONIA; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; NULL ALLELE; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPASTIC PARAPLEGIA; SPASTICITY; TENDON REFLEX; WHITE MATTER; AUTOPSY; FAMILY HEALTH; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; RNA SPLICING;

AUTOPSY; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYELIN PROTEOLIPID PROTEIN; NEURAL CONDUCTION; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; RNA SPLICE SITES;

EID: 84903542978     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813492387     Document Type: Article

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