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Article

Fatal infantile X-linked neuropathy.

Journal of child neurology - 1 Dec 2000

Sekul E, Carroll J E, Yaghmai F, Armstrong D L, Seltzer W K

Abstract excerpt

We report a pedigree with severe X-linked neuropathy that occurs in male infants and results in death, typically by 2 years of age. The proband of our report was weak with preserved mentation. He underwent extensive evaluation, which revealed abnormal nerve conduction studies, neurogenic changes on muscle biopsy, a decreased number of large myelinated fibers and rare onion bulb formations on nerve biopsy,...

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Source

Identifiers

PMID: 11198505
DOI: 10.1177/088307380001501217

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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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