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Article

The role of amyloid β in the pathological mechanism of GNE myopathy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2022

Zhang Tongtong, Shang Ren, Miao Jing

Abstract excerpt

GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and weakness initially involving the lower distal extremities. The treatment of GNE myopathy mainly focuses on a sialic acid deficiency caused by a mutation in the GNE gene, but it has not achieved the expected effect. The main pathological features of GNE myopathy are myofiber atrophy and rimmed vacuoles, including accumulation of...

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Identifiers

PMID: 35904705
DOI: 10.1007/s10072-022-06301-7
PMCID: PMC9616754

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