ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2018
[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
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1 citing paper in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.
- A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.Frontiers in neurology · 2021Pooled it
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7 authors at 1 institution in 1 country.
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Abstract
This article reports two cases of childhood-onset nemaline myopathy diagnosed by muscle pathology and genetic diagnosis. The two patients had onset in early childhood, with muscle weakness as the first manifestation, as well as long disease duration and slow progression. Gomori staining and hematoxylin-eosin staining showed red-stained rods in the sarcoplasmic cytoplasm and sarcolemma under a light microscope. Electron microscopy showed that the dense nemaline rods were located under the muscle fiber sarcolemma and parallel to the long axis of the muscle fibers, and some muscle fiber myofilaments were dissolved and necrotic. Gene testing found that one of the two patients had heterozygous mutation (c.1013A>C) in the ACTA1 gene, and the other had compound heterozygous mutation (c.18676C>T and c.9812C>A) in the NEB gene. The two mutations were more common in nemaline myopathy. Nemaline myopathy is a recessive or dominant inheritance myopathy, in which the nemaline rod in the cytoplasm of myocytes is a characteristic muscle pathological change. Pathological and genetic diagnosis is the gold standard for diagnosis of nemaline myopathy.
Indexed as
Identifiers
30369353PMC7389041W2998297571What OpenQuestion holds
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