Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

A. Simonati; G. M. Fabrizi; A. Pasquinelli; F. Taioli; T. Cavallaro; M. Morbin; G. Marcon; M. Papini; N. Rizzuto

doi:10.1016/S0960-8966(99)00008-5

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

A. Simonati, G. M. Fabrizi, A. Pasquinelli, F. Taioli, T. Cavallaro, M. Morbin, G. Marcon, M. Papini, N. Rizzuto

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article

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
Pages (from-to)	257-261
Number of pages	5
Journal	Neuromuscular Disorders
Volume	9
Issue number	4
DOIs	https://doi.org/10.1016/S0960-8966(99)00008-5
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

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10.1016/S0960-8966(99)00008-5

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title = "Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22",

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.",

keywords = "Congenital hypomyelination neuropathy, Dejerine-Sottas disease, Hypomyelination, PMP22",

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T1 - Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

AU - Simonati, A.

AU - Fabrizi, G. M.

AU - Pasquinelli, A.

AU - Taioli, F.

AU - Cavallaro, T.

AU - Morbin, M.

AU - Marcon, G.

AU - Papini, M.

AU - Rizzuto, N.

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Y1 - 1999/6/1

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AB - 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.

KW - Congenital hypomyelination neuropathy

KW - Dejerine-Sottas disease

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