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Article

Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report.

Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2022

Shi Le-Yang, Liu Yu, Hu Xiao-Feng, Li Xian-Hong, Wu Xue-Yan, Hu Jun, Ye Chao-Qun, Dai Qing-Mei, Huang Hui-Zhi

Abstract excerpt

Myofibrillar myopathy (MFM) is characterized by phenotypic heterogeneity; decreased function of the myosin-directed chaperone, UNC-45B protein, leads to MFM II, which is characterized by slow progressive proximal myasthenia. Currently, only two studies have reported 11 cases worldwide. This study aimed to conduct genetic research and etiological analysis of a neonatal case of perinatal myasthenia who eventually...

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Identifiers

PMID: 35292251
DOI: 10.1016/j.cca.2022.03.002

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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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