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Article

Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.

Muscle & nerve - 1 Oct 2021

Felice Kevin J, Whitaker Charles H, Khorasanizadeh Sadaf

Abstract excerpt

INTRODUCTION/AIMS: Advanced genetic testing including next-generation sequencing (AGT/NGS) has facilitated DNA testing in the clinical setting and greatly expanded new gene discovery for the Charcot-Marie-Tooth neuropathies and other hereditary neuropathies (CMT/HN). Herein, we report AGT/NGS results, clinical findings, and diagnostic yield in a cohort of CMT/HN patients evaluated at our neuropathy care center....

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Identifiers

PMID: 34232518
DOI: 10.1002/mus.27368

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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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