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. Copyright (C) 1999 Elsevier Science B.V.
Original language | English |
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Pages (from-to) | 257-261 |
Number of pages | 5 |
Journal | Neuromuscular Disorders |
Volume | 9 |
Issue number | 4 |
DOIs | |
Publication status | Published - Jun 1 1999 |
Keywords
- Congenital hypomyelination neuropathy
- Dejerine-Sottas disease
- Hypomyelination
- PMP22
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology