scholarly journals Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

2000 ◽  
Vol 67 (1) ◽  
pp. 14-22 ◽  
Author(s):  
M.E. Hodes ◽  
Karen Woodward ◽  
Nancy B. Spinner ◽  
Beverly S. Emanuel ◽  
Agnes Enrico-Simon ◽  
...  
Keyword(s):  
X Chromosome ◽  
Protein Gene ◽  
Proteolipid Protein ◽  
Pelizaeus Merzbacher Disease

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

1999 ◽  
Vol 45 (5) ◽  
pp. 624-632 ◽  
Author(s):  
Ken Inoue ◽  
Hitoshi Osaka ◽  
Kiyoshi Imaizumi ◽  
Atsuo Nezu ◽  
Jun-Ichi Takanashi ◽  
...  
Keyword(s):  
Molecular Mechanism ◽  
Protein Gene ◽  
Proteolipid Protein ◽  
Gene Duplications ◽  
Pelizaeus Merzbacher Disease

A missense mutation in the proteolipid protein gene responsible for Pelizaeus—Merzbacher disease in a Japanese family

1993 ◽  
Vol 2 (1) ◽  
pp. 19-22 ◽  
Author(s):  
Akiko Iwaki ◽  
Tamaki Muramoto ◽  
Toru Iwaki ◽  
Hiroyasu Furumi ◽  
Maria L. Dario-deLeon ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Protein Gene ◽  
Proteolipid Protein ◽  
Japanese Family ◽  
Pelizaeus Merzbacher Disease

Two autopsy cases with Pelizaeus-Merzbacher disease phenotype of adult onset, without mutation of proteolipid protein gene

2000 ◽  
Vol 99 (1) ◽  
pp. 7-13 ◽  
Author(s):  
A. Sasaki ◽  
K. Miyanaga ◽  
M. Ototsuji ◽  
A. Iwaki ◽  
T. Iwaki ◽  
...  
Keyword(s):  
Protein Gene ◽  
Proteolipid Protein ◽  
Adult Onset ◽  
Disease Phenotype ◽  
Pelizaeus Merzbacher Disease

scholarly journals Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Teva Brender ◽  
Donna Wallerstein ◽  
John Sum ◽  
Robert Wallerstein
Keyword(s):  
Female Patient ◽  
X Chromosome ◽  
Medical Literature ◽  
Proteolipid Protein ◽  
X Chromosome Inactivation ◽  
Unusual Presentation ◽  
Chromosome Inactivation ◽  
Myelin Protein ◽  
Pelizaeus Merzbacher Disease ◽  
Skewed X Chromosome Inactivation

Pelizaeus-Merzbacher disease (PMD) is neurodegenerative leukodystrophy caused by dysfunction of the proteolipid protein 1 (PLP1) gene on Xq22, which codes for an essential myelin protein. As an X-linked condition, PMD primarily affects males; however there have been a small number of affected females reported in the medical literature with a variety of different mutations in this gene. No affected females to date have a deletion like our patient. In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

Neurology ◽  
2000 ◽  
Vol 55 (8) ◽  
pp. 1089-1096 ◽  
Author(s):  
G. M. Hobson ◽  
A. P. Davis ◽  
N. C. Stowell ◽  
E. H. Kolodny ◽  
E. A. Sistermans ◽  
...  
Keyword(s):  
Protein Gene ◽  
Proteolipid Protein ◽  
Noncoding Regions ◽  
Pelizaeus Merzbacher Disease

A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease

1997 ◽  
Vol 9 (5) ◽  
pp. 475-476 ◽  
Author(s):  
Chiaki Kawanishi ◽  
Hitoshi Osaka ◽  
Kenji Owa ◽  
Ken Inoue ◽  
Tomohiro Miyakawa ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Protein Gene ◽  
Proteolipid Protein ◽  
Pelizaeus Merzbacher Disease

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

2001 ◽  
Vol 21 (8) ◽  
pp. 668-671 ◽  
Author(s):  
Stefano Regis ◽  
Mirella Filocamo ◽  
Raffaella Mazzotti ◽  
Roberto Cusano ◽  
Fabio Corsolini ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Gene Duplication ◽  
Multiplex Pcr ◽  
Protein Gene ◽  
Proteolipid Protein ◽  
Disease Detection ◽  
Pelizaeus Merzbacher Disease ◽  
Fluorescent Multiplex Pcr
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