GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.

doi:10.3233/JND-230130

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Article

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.

Journal of neuromuscular diseases - 1 Jan 2024

Baskar Dipti, Reddy Nishanth, Preethish-Kumar Veeramani, Polavarapu Kiran, Nishadham Vikas, Vengalil Seena, Nashi Saraswati, Sanka Sai Bhargava, Bardhan Mainak, Huddar Akshata, Unnikrishnan Gopikrishnan, Harikrishna Ganaraja Valakunja, Gunasekaran Swetha, Thomas Priya Treesa, Keerthipriya Muddasu Suhasini, Girija Manu Santhappan, Arunachal Gautham, Anjanappa Ram Murthy, Nishino Ichizo, Pogoryelova Oksana, Lochmuller Hanns, Nalini Atchayaram

Abstract excerpt

Introduction: GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing with preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10-20 years after onset. This study analyzes the phenotype-genotype characteristics and disease progression in a large cohort of GNEM patients...

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PMID: 39213088
DOI: 10.3233/JND-230130
PMCID: PMC11380251

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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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