Les information sur Maladie de Pelizaeus-Merzbacher: Mécanisme de Maladie et Classification

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Classe de Maladie
Base de données d'anomalies d'archives de Jablonski/NIH
CLASS/Pediatric disorders (ex)
CLASS/Basal ganglia lesion/involvement/disorders (ex)
CLASS/Brain/CNS disorder (ex)
CLASS/Neurologic (category)
Pathophysiologie
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Pathophysiology/Dominant and Autosomal recessive variants
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene locus Chromosome Xq
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq22
Pathophysiology/Genomic base pair repeats mutation
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/PLP gene seven exon/mutation/deletion/repeats
Pathophysiology/X-linked and autosomal dominant types
Démyélinisation
Pathophysiology/Cerebral demyelination
Pathophysiology/CNS degeneration
Pathophysiology/CNS Proteolipid protein (PLP) gene
Pathophysiology/Oligodendrocyte/CNS defective development
Processus
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Developmental/delayed expression disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Heterogenous group of disorders (ex)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Subsets/Variable dominance/sex linkage
PROCESS/Two/multiple subsets/disease pattern
PROCESS/Hereditary ataxia disorder (ex)
PROCESS/Hereditary SCA (spinocerebellar ataxias)
PROCESS/Leukodystrophy process (ex)
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