Congenital hypomyelination due to myelin protein zero Q215X mutation

P. Mandich, G. L. Mancardi, A. Varese, S. Soriani, E. Di Maria, E. Bellone, M. Bado, L. Gross, Anthony John Windebank, F. Ajmar, A. Schenone

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Congenital hypomyelination (CH) is a hereditary demyelinating peripheral neuropathy characterized by early infancy onset, distal muscle weakness, hypotonia, areflexia, and severe slowing of nerve conduction velocities. In the present report, the clinical, morphological, and immunohistochemical features of a CH case and the identification of a mutation in the gene (MPZ) for protein zero (P0) associated with this phenotype are described. This 'de novo' mutation in a patient presenting with clinical features quite distinct from those of the more frequent Charcot-Marie-Tooth type 1B disease (CMT1B) or Dejerine-Sottas syndrome (DSS) confirms that CH is allelic with other disorders characterized by a less severe phenotype and a different clinical and neuropathological profile.

Original languageEnglish (US)
Pages (from-to)676-678
Number of pages3
JournalAnnals of Neurology
Volume45
Issue number5
DOIs
StatePublished - 1999

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Myelin P0 Protein
Hereditary Sensory and Motor Neuropathy
Phenotype
Charcot-Marie-Tooth Disease
Mutation
Muscle Hypotonia
Neural Conduction
Muscle Weakness
Peripheral Nervous System Diseases
Proteins

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mandich, P., Mancardi, G. L., Varese, A., Soriani, S., Di Maria, E., Bellone, E., ... Schenone, A. (1999). Congenital hypomyelination due to myelin protein zero Q215X mutation. Annals of Neurology, 45(5), 676-678. https://doi.org/10.1002/1531-8249(199905)45:5<676::AID-ANA21>3.0.CO;2-K

Congenital hypomyelination due to myelin protein zero Q215X mutation. / Mandich, P.; Mancardi, G. L.; Varese, A.; Soriani, S.; Di Maria, E.; Bellone, E.; Bado, M.; Gross, L.; Windebank, Anthony John; Ajmar, F.; Schenone, A.

In: Annals of Neurology, Vol. 45, No. 5, 1999, p. 676-678.

Research output: Contribution to journalArticle

Mandich, P, Mancardi, GL, Varese, A, Soriani, S, Di Maria, E, Bellone, E, Bado, M, Gross, L, Windebank, AJ, Ajmar, F & Schenone, A 1999, 'Congenital hypomyelination due to myelin protein zero Q215X mutation', Annals of Neurology, vol. 45, no. 5, pp. 676-678. https://doi.org/10.1002/1531-8249(199905)45:5<676::AID-ANA21>3.0.CO;2-K
Mandich, P. ; Mancardi, G. L. ; Varese, A. ; Soriani, S. ; Di Maria, E. ; Bellone, E. ; Bado, M. ; Gross, L. ; Windebank, Anthony John ; Ajmar, F. ; Schenone, A. / Congenital hypomyelination due to myelin protein zero Q215X mutation. In: Annals of Neurology. 1999 ; Vol. 45, No. 5. pp. 676-678.
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AU - Di Maria, E.

AU - Bellone, E.

AU - Bado, M.

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