Article
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
European journal of human genetics : EJHG - 1 Nov 2000
Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are X-linked developmental defects of myelin formation affecting the central nervous system (CNS). They differ clinically in the onset and severity of the motor disability but both are allelic to the proteolipid protein gene (PLP), which encodes the principal protein components of CNS myelin, PLP and its spliced isoform, DM20. We investigated...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Amino Acid Substitution
- Brain Diseases
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Demyelinating Diseases
- Family Health
- Genotype
- Humans