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Article

GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.

Journal of clinical neuromuscular disease - 1 Dec 2020

Chrisman Christina, McKeever Paul E

Abstract excerpt

We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant weakness since adolescence that had been dismissed as "clumsiness." Exam and electrodiagnostic testing suggested a predominately distal myopathy. Muscle biopsy of the...

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Identifiers

PMID: 33214394
DOI: 10.1097/CND.0000000000000317

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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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