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Article

Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.

Acta neuropathologica - 1 Apr 2007

Vallat Jean-Michel, Magy Laurent, Lagrange Emmeline, Sturtz Franck, Magdelaine Corinne, Grid Djamel, Tazir Mériem

Abstract excerpt

We report two sporadic patients of CMT disease in different consanguineous families. The electrophysiological examination led to the diagnosis of a severe demyelinating neuropathy. The nerve biopsies exhibited numerous outfoldings of the myelin sheaths and onion-bulb proliferations. The consangui...

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PMID: 17294201
DOI: 10.1007/s00401-007-0196-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17294201-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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