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

Research output: Contribution to journalArticle

40 Citations (Scopus)

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 languageEnglish
Pages (from-to)257-261
Number of pages5
JournalNeuromuscular Disorders
Volume9
Issue number4
DOIs
Publication statusPublished - Jun 1 1999

Fingerprint

Myelin P0 Protein
Hereditary Sensory and Motor Neuropathy
Sural Nerve
Missense Mutation
Myelin Sheath
Point Mutation
Codon
Sequence Analysis
Maintenance
Phenotype
Biopsy
Mutation

Keywords

  • Congenital hypomyelination neuropathy
  • Dejerine-Sottas disease
  • Hypomyelination
  • PMP22

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Simonati, A., Fabrizi, G. M., Pasquinelli, A., Taioli, F., Cavallaro, T., Morbin, M., ... Rizzuto, N. (1999). Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. Neuromuscular Disorders, 9(4), 257-261. https://doi.org/10.1016/S0960-8966(99)00008-5

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. / Simonati, A.; Fabrizi, G. M.; Pasquinelli, A.; Taioli, F.; Cavallaro, T.; Morbin, M.; Marcon, G.; Papini, M.; Rizzuto, N.

In: Neuromuscular Disorders, Vol. 9, No. 4, 01.06.1999, p. 257-261.

Research output: Contribution to journalArticle

Simonati, A, Fabrizi, GM, Pasquinelli, A, Taioli, F, Cavallaro, T, Morbin, M, Marcon, G, Papini, M & Rizzuto, N 1999, 'Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22', Neuromuscular Disorders, vol. 9, no. 4, pp. 257-261. https://doi.org/10.1016/S0960-8966(99)00008-5
Simonati A, Fabrizi GM, Pasquinelli A, Taioli F, Cavallaro T, Morbin M et al. Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. Neuromuscular Disorders. 1999 Jun 1;9(4):257-261. https://doi.org/10.1016/S0960-8966(99)00008-5
Simonati, A. ; Fabrizi, G. M. ; Pasquinelli, A. ; Taioli, F. ; Cavallaro, T. ; Morbin, M. ; Marcon, G. ; Papini, M. ; Rizzuto, N. / Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. In: Neuromuscular Disorders. 1999 ; Vol. 9, No. 4. pp. 257-261.
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