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Article

Clinical and morphological phenotype of HMSN 1A mosaicism.

Neuromuscular disorders : NMD - 1 Jan 1997

Grehl H, Rautenstrauss B, Liehr T, Bickel A, Ekici A, Bathke K, Neundörfer B

Abstract excerpt

Clinical, neurophysiological and morphological studies on a patient with mosaicism of the 17p11.2 duplication were performed in detail for the first time. Since duplication occurs during paternal meiosis, a somatic reversion is suggested, leading to mosaicism. The proportion of nuclei with duplication varied markedly between 49% in blood cells and 74% in tissue from the sural nerve. Clinically, mild symptoms of a...

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Identifiers

PMID: 9132137
DOI: 10.1016/s0960-8966(96)00396-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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