A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease
J Neurol Sci
.
2019 Feb 15:397:135-137.
doi: 10.1016/j.jns.2018.12.031.
Epub 2018 Dec 23.
Authors
Carmen Prior
1
,
Maria Muñoz-Calero
1
,
Clara Gómez-Gonzalez
1
,
Paloma Martinez-Montero
1
,
Luis Barrio
2
,
Pilar Poo
3
,
Loreto Martorell
4
,
Jesus Molano
5
Affiliations
1
INGEMM/IdIPAZ/CIBERER, Hospital Universitario La Paz, Madrid, Spain.
2
Experimental Neurology Unit, IRYCIS, Madrid, Spain.
3
Neurology Service, Hospital Sant Joan de Deu, Barcelona, Spain.
4
Molecular Genetics Unit, Hospital Sant Joan de Deu, Barcelona, Spain.
5
INGEMM/IdIPAZ/CIBERER, Hospital Universitario La Paz, Madrid, Spain. Electronic address: jesusmolano959@gmail.com.
PMID:
30616056
DOI:
10.1016/j.jns.2018.12.031
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Adolescent
Humans
Male
Myelin Proteolipid Protein / genetics*
Pelizaeus-Merzbacher Disease / genetics*
Sequence Deletion*
Substances
Myelin Proteolipid Protein
PLP1 protein, human