Jimpymsd mouse mutation and connatal pelizaeus-merzbacher disease

American Journal of Medical Genetics

Volumn 75, Issue 4, 1998, Pages 439-440

  Yamamoto, Toshiyuki ^a  

^a TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

ANIMAL; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; DEMYELINATING DISEASE; DISEASE MODEL; GENETICS; HUMAN; INFANT; JAPAN; LETTER; MALE; MOUSE; MOUSE MUTANT; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SCHILDER DISEASE;

ANIMALS; CENTRAL NERVOUS SYSTEM DISEASES; DEMYELINATING DISEASES; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; JAPAN; MALE; MICE; MICE, JIMPY; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PHENOTYPE;

EID: 0032477642     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19980203)75:4<439::aid-ajmg19>3.0.co;2-p     Document Type: Article

References (5)

1. Doll R, Natowicz MR, Schiffmann R, Smith FI (1992): Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 51:161-169.
2. Gow A, Lazzarini RA (1996): A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat Genet 13:422-428.
3. Hodes ME, Pratt VM, Dlouhy SR (1993): Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 15:383-394.
4. Hudson LD, Puckett C, Berndt J, Chan J, Gencic S (1989): Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 86:8128-8131.
5. Kobayashi H, Hoffman EP, Marks HG (1994): The rumpshaker mutation in spastic paraplegia. Nat Genet 7:351-352.