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.

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

SIMONATI, Alessandro;FABRIZI, Gian Maria;TAIOLI, Federica;Cavallaro T.;RIZZUTO, Nicolo'
1999-01-01

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.
1999
Congenital hypomyelination neuropathy; Dejerine-Sottas disease; Hypomyelination; PMP22;
congenital hypomyelination neuropathy; PMP22; hypomyelination; Dejerine-Sottas disease
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/304738
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