Pelizaeus-Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations

American Journal of Medical Genetics, Part A

Volumn 143, Issue 13, 2007, Pages 1442-1447

  Marble, Michael ^a,c   Voeller, Kytja S ^b   May, Melanie M ^b   Stevenson, Roger E ^b   Schwartz, Charles E ^b   Simensen, Richard J ^b  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GREENWOOD GENETIC CENTER   (United States)

^c CHILDREN S HOSPITAL   (United States)

Author keywords

Neurocognition; Neurodegeneration; Pelizaeus Merzbacher disease; PLP1 mutation; X chromosome; X linked mental retardation

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BABINSKI REFLEX; CLINICAL ARTICLE; CLONUS; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DYSARTHRIA; FEMALE; GAIT DISORDER; HETEROZYGOTE; HUMAN; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; MUSCLE CONTRACTURE; MUSCLE HYPOTONIA; MUTATION; NEUROPSYCHOLOGICAL TEST; PEDIGREE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; QUADRIPLEGIA; RATING SCALE; SEIZURE; SHORT TERM MEMORY; VERBAL MEMORY; VINELAND ADAPTIVE BEHAVIOR SCALE; VISUAL MEMORY; X CHROMOSOME INACTIVATION;

ADULT; COGNITION DISORDERS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; X CHROMOSOME INACTIVATION;

EID: 34447341974     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31804     Document Type: Article

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