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Article

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2014

Klein Christopher J, Middha Sumit, Duan Xiaohui, Wu Yanhong, Litchy William J, Gu Weihong, Dyck P James B, Gavrilova Ralitza H, Smith David I, Kocher Jean-Pierre, Dyck Peter J

Abstract excerpt

BACKGROUND: Inherited polyneuropathies often go undiagnosed. We investigated whole exome sequencing (WES) in utility to identify the genetic causes of diverse forms of inherited polyneuropathies without genetic diagnosis. METHODS: WES was applied to 24 cases from 15 kindreds. These kindreds had earlier unsuccessful candidate gene testing and five probands were initially thought to have acquired neuropathy. We...

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Source

Identifiers

PMID: 24604904
DOI: 10.1136/jnnp-2013-306740

Genes

ATL1
BSCL2
DCTN1
LITAF
MFN2
REEP1
SPTLC1

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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