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Article

A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.

Acta neurologica Belgica - 1 Dec 2020

Wen Qi, Chang Xueli, Guo Junhong

Abstract excerpt

Nemaline myopathy, a rare congenital myopathy, is characterized by generalized muscle weakness, hypotonia, respiratory insufficiency, and the presence of rod structures on muscle biopsy, which is caused by mutations in at least 13 known genes. A patient showing gradually deteriorated proximal muscle weakness and rod-shaped structures found in muscle fibers was suspected of having nemaline myopathy, following by...

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PMID: 31696431
DOI: 10.1007/s13760-019-01230-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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