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Article

Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.

Journal of child neurology - 1 Sept 2018

Conant Alexander, Curiel Julian, Pizzino Amy, Sabetrasekh Parisa, Murphy Jennifer, Bloom Miriam, Evans Sarah H, Helman Guy, Taft Ryan J, Simons Cas, Whitehead Matthew T, Moore Steven A, Vanderver Adeline

Abstract excerpt

Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing, causative mutations in genes leading to central hypomyelination are being identified. Two such individuals presented with arthrogryposis multiplex congenita,...

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Source

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Identifiers

PMID: 29882456
DOI: 10.1177/0883073818776157
PMCID: PMC6800098

Genes

CNTNAP1

Variants

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.

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