Variable expression of a novel PLP1 mutation in members of a family with pelizaeus-merzbacher disease

Journal of Child Neurology

Volumn 24, Issue 5, 2009, Pages 618-624

  Fattal Valevski, Aviva ^a   DiMaio, Miriam S ^b   Hisama, Fuki M ^c   Hobson, Grace M ^d   Davis Williams, Angelique ^d   Garbern, James Y ^e   Mahoney, Maurice J ^b   Kolodny, Edwin H ^f   Pastores, Gregory M ^f,g  

^a TEL AVIV UNIVERSITY   (Israel)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

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

^f NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g NONE   (United States)

Author keywords

Cerebral palsy; Nystagmus; Pelizaeus Merzbacher disease; Preimplantation genetic diagnosis; Proteolipid protein

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CEREBRAL PALSY; CHILD; CLINICAL ARTICLE; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; MALE; MYELIN DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; BRAIN; CEREBRAL PALSY; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; MYELIN SHEATH; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; POINT MUTATION; PREIMPLANTATION DIAGNOSIS;

EID: 65549151341     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808327833     Document Type: Article

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