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Article

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.

Neuromuscular disorders : NMD - 1 Jan 2008

Smit Liesbeth S, Roofthooft Daniella, van Ruissen Fred, Baas Frank, van Doorn Pieter A

Abstract excerpt

Congenital hypomyelinating neuropathy is a rare condition characterized by prenatal, neonatal or early infantile onset of hypotonia, paresis and areflexia. Most of the few patients described in literature die within the first years of life. Histopathologically there are no or thin myelin sheaths. Mutations have been described in the following genes, MPZ, EGR2, PMP22, and MTMR2. Here we describe a family with a...

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Source

Identifiers

PMID: 17825553
DOI: 10.1016/j.nmd.2007.07.011

Genes

MPZ
EGR2
MTMR2
PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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