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Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
- Publication Year :
- 1999
-
Abstract
- We describe a patient with congenital hypomyelination neuropathy. The pathological and morphometrical findings in the sural nerve biopsy were consistent with a defect of myelin formation and maintenance. Direct sequence analysis of the genomic regions coding the peripheral myelin proteins P0 and PMP22 disclosed a heterozygous missense point mutation that leads to a Ser72Leu substitution in the second transmembrane of PMP22. Codon 72 mutations of PMP22 are associated with different phenotypes encompassing the Dejerine-Sottas syndrome and including congenital hypomyelination neuropathy.
- Subjects :
- Dejerine-Sottas disease
Male
Pathology
medicine.medical_specialty
hypomyelination
Sequence analysis
Mutation, Missense
medicine.disease_cause
Sural Nerve
Humans
Point Mutation
Medicine
Missense mutation
Pathological
Genetics (clinical)
PMP22
Genetics
Congenital hypomyelination neuropathy
Mutation
Electromyography
business.industry
Point mutation
Infant
DNA
medicine.disease
congenital hypomyelination neuropathy
Phenotype
Transmembrane protein
Dejerine–Sottas disease
Electrophysiology
Hypomyelination
Amino Acid Substitution
Neurology
Pediatrics, Perinatology and Child Health
Neurology (clinical)
business
Myelin Proteins
Demyelinating Diseases
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....5dcc11cee6ca2a082c2399e155012a53