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Article

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.

Annals of neurology - 1 Sept 1997

Korinthenberg R, Sauer M, Ketelsen U P, Hanemann C O, Stoll G, Graf M, Baborie A, Volk B, Wirth B, Rudnik-Schöneborn S, Zerres K

Abstract excerpt

Three newborn siblings presented with generalized weakness, asphyxia, facial diplegia, and external ophthalmoplegia. Electrophysiological testing showed inexcitability of motor and sensory nerves and myographic signs of denervation. Nerve biopsies and postmortem examination showed loss of myelinated fibers and axonal damage in sensory and mixed nerves. Many spinal motor neurons were chromatolytic although their...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9307259
DOI: 10.1002/ana.410420314

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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