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Article

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies.

Muscle & nerve - 1 Nov 1993

Ionasescu V V, Ionasescu R, Searby C

Abstract excerpt

Sixty-three families with dominantly inherited Charcot-Marie-Tooth (CMT) neuropathies including 730 subjects (total) from which 356 affected were studied clinically, electrophysiologically (MNCVs and EMGs), by genetic linkage, and screened for DNA duplication. Thirty-eight families (60.3%) were type 1A (demyelinating CMT mapped on chromosome 17). DNA duplication was present in 36 families (94.8% of CMT1A...

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PMID: 8413376
DOI: 10.1002/mus.880161114

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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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