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Article

Congenital hypomyelination due to myelin protein zero Q215X mutation.

Annals of neurology - 1 May 1999

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 10319895
DOI: 10.1002/1531-8249(199905)45:5<676::aid-ana21>3.0.co;2-k

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Congenital hypomyelination due to myelin protein zero Q215X mutation.PMID 10319895Read ↗

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Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.Semantic proximity Read ↗

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Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.Semantic proximity Read ↗

A nonsense <i>mutation in Myelin Protein Zero</i> causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal functionSemantic proximity Read ↗

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.Semantic proximity Read ↗

Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.Semantic proximity Read ↗

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