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Article

Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.

Acta neurologica Belgica - 1 Jun 2022

Yin Xi, Pu Chuanqiang, Wang Zhenfu, Li Ke, Wang HuiFang

Abstract excerpt

Nemaline myopathy (NM) is a congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. The samples of 16 nemaline myopathy patients diagnosed by characteristically pathological features went through whole exon sequencing. Clinico-pathological and genetic features of the cases were systematically analyzed. According to the classification of nemaline...

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Identifiers

PMID: 33742414
DOI: 10.1007/s13760-020-01542-9
PMCID: PMC9170660

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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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