A De Novo Variant of GNE Myopathy: Case Report and Genetic Review (P2-11.028)

To describe a novel de novo mutation in a case of GNE myopathy and describe the associated inherent diagnostic challenges.

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Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000209089
Primary Topic
Inflammatory Myopathies and Dermatomyositis
Type
article
Field-Weighted Citation Impact
0.00
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article

A De Novo Variant of GNE Myopathy: Case Report and Genetic Review (P2-11.028)

John A. Morren, Chantal Bhan
Neurology
Inflammatory Myopathies and Dermatomyositis
article

A De Novo Variant of GNE Myopathy: Case Report and Genetic Review (P2-11.028)

John A. Morren, Chantal Bhan
article en

Abstract

To describe a novel de novo mutation in a case of GNE myopathy and describe the associated inherent diagnostic challenges.

NeurologyVol. 104(7_Supplement_1)
Cleveland Clinic (US)
Zero hunger
Openalex Percentile: Top 90%
Inflammatory Myopathies and Dermatomyositis
DOISourceOpenAlex
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A De Novo Variant of GNE Myopathy: Case Report and Genetic Review (P2-11.028) — John A. Morren, Chantal Bhan · Neurology (2025) | TGRS Research Map | TGRS